Variants from Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine with conflicting interpretations

Minimum review status of the submission from Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
209	258	12	206	9	5	56	247

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All submitters
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	drug response
	pathogenic	12	108	20	5	2	1	3
	likely pathogenic	109	0	31	4	0	0	1
	uncertain significance	2	3	0	6	6	0	0

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp	0	153	4	71	9	1	6	91
LDLR-LOVD, British Heart Foundation	0	36	0	29	0	0	1	30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	79	0	29	0	0	1	30
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	14	0	17	0	0	8	25
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	25	0	25	0	0	0	25
Robarts Research Institute, Western University	0	7	0	24	0	0	1	25
Counsyl	0	68	0	20	0	0	2	22
Institute of Human Genetics, University of Leipzig Medical Center	0	65	0	16	0	0	2	18
OMIM	0	61	5	12	0	0	1	18
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	11	0	16	0	0	1	17
Color Diagnostics, LLC DBA Color Health	0	57	0	15	0	0	1	16
Myriad Genetics, Inc.	0	55	0	14	2	0	0	16
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	17	0	12	0	0	3	15
Natera, Inc.	0	53	0	15	0	0	0	15
Revvity Omics, Revvity	0	54	0	13	0	0	2	15
All of Us Research Program, National Institutes of Health	0	118	0	12	0	0	2	14
Fundacion Hipercolesterolemia Familiar	0	13	0	7	0	0	7	14
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	11	0	6	0	0	7	13
Baylor Genetics	0	89	0	8	0	0	4	12
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	20	0	12	0	0	0	12
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	12	0	9	0	0	3	12
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	19	0	12	0	0	0	12
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	22	0	12	0	0	0	12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	36	0	9	0	0	3	12
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	15	0	9	0	0	2	11
Iberoamerican FH Network	0	8	0	5	0	0	5	10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	32	1	8	0	0	1	10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	6	0	7	0	0	2	9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	15	0	9	0	0	0	9
Fulgent Genetics, Fulgent Genetics	0	37	0	9	0	0	0	9
Variantyx, Inc.	0	33	1	8	0	0	0	9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	14	0	6	0	0	2	8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	704	2	0	8	0	0	0	8
Illumina Laboratory Services, Illumina	0	19	0	7	0	0	1	8
Mendelics	0	21	0	8	0	0	0	8
3billion	0	27	0	6	0	0	1	7
Genome-Nilou Lab	0	12	0	5	2	0	0	7
Juno Genomics, Hangzhou Juno Genomics, Inc	0	17	0	5	0	0	2	7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	26	0	6	0	0	0	6
MGZ Medical Genetics Center	0	43	0	5	0	0	0	5
Sharing Clinical Reports Project (SCRP)	0	64	0	5	0	0	0	5
Breast Cancer Information Core (BIC) (BRCA1)	0	33	0	0	0	0	4	4
CeGaT Center for Human Genetics Tuebingen	0	7	0	3	0	0	1	4
ClinPGx	0	0	0	0	0	4	0	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	19	0	2	0	0	2	4
GENinCode PLC	0	7	0	4	0	0	0	4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	13	0	4	0	0	0	4
Institute of Human Genetics Munich, TUM University Hospital	0	11	0	4	0	0	0	4
Molecular Pathology, Peter Maccallum Cancer Centre	0	29	0	4	0	0	0	4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	11	0	4	0	0	0	4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	7	0	3	0	0	1	4
Breast Cancer Information Core (BIC) (BRCA2)	0	35	0	1	0	0	2	3
ClinGen Cardiomyopathy Variant Curation Expert Panel	0	0	0	1	0	0	2	3
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	4	0	2	0	0	1	3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	22	0	2	0	0	1	3
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen	0	5	0	3	0	0	0	3
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	13	1	2	0	0	0	3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	7	0	2	0	0	1	3
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	0	0	0	3	0	0	0	3
Hadassah Hebrew University Medical Center	0	4	0	3	0	0	0	3
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	2	0	0	1	3
Institute of Human Genetics, Heidelberg University	0	8	0	3	0	0	0	3
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	8	0	3	0	0	0	3
New York Genome Center	0	13	1	1	0	0	1	3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	13	1	1	0	0	1	3
deCODE genetics, Amgen	0	6	0	3	0	0	0	3
Arcensus	0	2	0	2	0	0	0	2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	2	0	0	0	2
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	0	0	0	2	0	0	0	2
Cardiovascular Biomarker Research Laboratory, Mayo Clinic	0	0	0	1	0	0	1	2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	0	0	2	0	0	0	2
Center for Medical Genetics Ghent, University of Ghent	0	0	0	2	0	0	0	2
Clinical Genetics Laboratory, Skane University Hospital Lund	0	6	0	2	0	0	0	2
Clinical Genomics Laboratory, Washington University in St. Louis	0	11	0	2	0	0	0	2
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	77	0	2	0	0	0	2
Dasa	0	19	0	2	0	0	0	2
Department of Molecular Genetics, Istishari Arab Hospital	0	0	0	2	0	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	36	0	2	0	0	0	2
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	3	0	2	0	0	0	2
Genesis Genomics	0	19	0	2	0	0	0	2
Genomics England Pilot Project, Genomics England	0	1	0	2	0	0	0	2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	0	0	2	0	0	0	2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	5	1	0	0	0	1	2
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald	0	2	0	2	0	0	0	2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	0	1	0	0	1	2
Institute of Human Genetics, University Hospital of Duesseldorf	0	3	0	2	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	0	7	0	1	0	0	1	2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	1	0	2	0	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	9	1	1	0	0	0	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	3	0	2	0	0	0	2
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	2	0	1	0	0	1	2
Molecular Genetics, Royal Melbourne Hospital	0	5	0	2	0	0	0	2
PreventionGenetics, part of Exact Sciences	0	9	0	2	0	0	0	2
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	0	10	0	2	0	0	0	2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	8	0	1	0	0	0	1
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham	0	0	0	1	0	0	0	1
BRCAlab, Lund University	0	43	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	3	0	1	0	0	0	1
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	2	0	1	0	0	0	1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	0	0	1	0	0	0	1
CSER _CC_NCGL, University of Washington	0	3	0	1	0	0	0	1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London	0	1	0	1	0	0	0	1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere	0	1	0	1	0	0	0	1
Cardiology unit, Meyer University Hospital	0	0	0	1	0	0	0	1
Center for Statistical Genetics, Columbia University	0	0	0	0	0	0	1	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	4	0	1	0	0	0	1
Center of Medical Genetics and Primary Health Care	0	0	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	18	0	1	0	0	0	1
ClinGen FBN1 Variant Curation Expert Panel, ClinGen	0	0	0	0	0	0	1	1
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
ClinGen VHL Variant Curation Expert Panel, ClinGen	0	0	0	0	0	0	1	1
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center	0	0	0	1	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	28	0	1	0	0	0	1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	0	0	0	1	0	0	0	1
Clinical Genetics Laboratory, Region Ostergotland	0	4	0	0	0	0	1	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	7	0	1	0	0	0	1
Clinical Genetics, Academic Medical Center	0	0	0	1	0	0	0	1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill	0	1	0	1	0	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	2	0	1	0	0	0	1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	0	0	0	0	1	1
Cohesion Phenomics	0	0	0	0	0	0	1	1
Department of Clinical Genetics, Medical University of Lodz	0	0	0	1	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	10	0	1	0	0	0	1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	0	4	0	1	0	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	3	0	0	0	0	1	1
Division of Medical Genetics, University of Washington	0	4	0	1	0	0	0	1
Eurofins Ntd Llc (ga)	0	2	0	1	0	0	0	1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	74	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	1	0	0	0	1
GeneDx	0	10	0	0	0	0	1	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	1	0	1	0	0	0	1
Genomics And Bioinformatics Analysis Resource, Columbia University	0	2	0	1	0	0	0	1
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	0	0	1	0	0	0	1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	0	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	1	0	0	0	1
Intergen Genetics and Rare Diseases Diagnosis Center	0	0	0	1	0	0	0	1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	9	0	0	0	0	1	1
Laboratorio de I+D, Fundación Centro Médico de Asturias	0	0	0	0	0	0	1	1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	0	0	1	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	3	0	1	0	0	0	1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	0	0	0	1	0	0	0	1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital	0	0	0	1	0	0	0	1
Medical and Scientific Branch, Hong Kong Genome Institute	0	3	0	1	0	0	0	1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	0	0	1	0	0	0	1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	0	0	1	0	0	0	1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	0	0	1	0	0	0	1
NHS Central & South Genomic Laboratory Hub	0	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	10	0	1	0	0	0	1
Pathway Genomics	0	13	0	1	0	0	0	1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	0	1	0	1	0	0	0	1
Prof. Thelma's Laboratory, Department of Genetics, University of Delhi South Campus	0	0	0	1	0	0	0	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	4	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	2	0	1	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	2	0	1	0	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	6	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03738
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	rs1805128	0.00841
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00408
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00037
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	rs5742904	0.00028
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)	rs74315447	0.00024
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)	rs118204057	0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met)	rs79658334	0.00022
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)	rs114733570	0.00021
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	rs201709513	0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)	rs200165598	0.00015
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala)	rs202217590	0.00010
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	rs137853197	0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	rs202141173	0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)	rs201573863	0.00009
NM_007194.4(CHEK2):c.319+2T>A	rs587782401	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)	rs146200173	0.00007
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	rs74315445	0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)	rs72646846	0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00005
NM_000501.4(ELN):c.1150+1G>A	rs727503030	0.00005
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	rs121908030	0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00005
NM_152416.4(NDUFAF6):c.298-768T>C	rs575462405	0.00005
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)	rs397516347	0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	rs368861241	0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)	rs139624145	0.00004
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	rs28941776	0.00004
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)	rs28942084	0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	rs376459828	0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)	rs587779342	0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val)	rs5030824	0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)	rs45611033	0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)	rs773658037	0.00003
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)	rs144614838	0.00003
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)	rs746118995	0.00003
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)	rs121908026	0.00003
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	rs373822756	0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	rs121908029	0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	rs368657165	0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	rs28897672	0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	rs146646971	0.00003
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	rs63750617	0.00002
NM_000256.3(MYBPC3):c.26-2A>G	rs376395543	0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	rs397516068	0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	rs193922390	0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)	rs373371572	0.00002
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	rs121908039	0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)	rs763112609	0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His)	rs1313042151	0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	rs397517776	0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	rs587779815	0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	rs139770721	0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)	rs398122783	0.00001
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)	rs80359152	0.00001
NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met)	rs542998031	0.00001
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)	rs900216804	0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)	rs199472800	0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)	rs199472720	0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)	rs193922365	0.00001
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His)	rs758751607	0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	rs121909377	0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)	rs397516103	0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)	rs121913626	0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)	rs727504240	0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	rs36211715	0.00001
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)	rs727503278	0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	rs753392652	0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	rs45516091	0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)	rs199473286	0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	rs727504242	0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)	rs104894727	0.00001
NM_000527.4(LDLR):c.313+1G>A	rs112029328	0.00001
NM_000527.5(LDLR):c.-152C>T	rs879254367	0.00001
NM_000527.5(LDLR):c.1061-1G>C	rs879254774	0.00001
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)	rs768430352	0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	rs368562025	0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)	rs779732323	0.00001
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	rs267607213	0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)	rs879254867	0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)	rs754536745	0.00001
NM_000527.5(LDLR):c.190+4A>T	rs769446356	0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)	rs775092314	0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)	rs121908031	0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	rs730882078	0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	rs121908025	0.00001
NM_000527.5(LDLR):c.314-2A>C	rs879254470	0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	rs200727689	0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)	rs771917370	0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu)	rs879254603	0.00001
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)	rs875989906	0.00001
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)	rs387906305	0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)	rs879254667	0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)	rs121908040	0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)	rs875989907	0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)	rs875989911	0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)	rs772978260	0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	rs118192122	0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	rs121918594	0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His)	rs587782144	0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	rs121913343	0.00001
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe)	rs45517144	0.00001
NM_000548.5(TSC2):c.3815-1G>A	rs2090256621	0.00001
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys)	rs397514997	0.00001
NM_000548.5(TSC2):c.4570-1G>A	rs777985056	0.00001
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val)	rs45517394	0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)	rs766209297	0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)	rs138996609	0.00001
NM_003242.6(TGFBR2):c.95-2A>G	rs779131465	0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)	rs767643821	0.00001
NM_007294.4(BRCA1):c.442-1G>T	rs1351019392	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	rs397517889	0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	rs397517906	0.00001
NC_000011.10:g.47347670del	rs727503212
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)	rs768922431
NM_000038.6(APC):c.694C>T (p.Arg232Ter)	rs397515734
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)	rs377597949
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)	rs730881388
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)	rs1555093684
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	rs587776547
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)	rs1565607653
NM_000051.4(ATM):c.8988-2A>G	rs786202087
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)	rs276174813
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	rs80359439
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)	rs80359507
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)	rs80358840
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)	rs28897743
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)	rs80358928
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)	rs397507912
NM_000059.4(BRCA2):c.7806-2A>G	rs81002836
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)	rs41293513
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)	rs80359071
NM_000059.4(BRCA2):c.8633-1G>A	rs398122711
NM_000059.4(BRCA2):c.8755-1G>A	rs81002812
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)	rs80359752
NM_000059.4(BRCA2):c.9257-1G>C	rs81002889
NM_000090.4(COL3A1):c.1694_1697del (p.Pro565fs)	rs2469135354
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	rs794728060
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	rs587779650
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	rs80358233
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	rs730880099
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)	rs397515775
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)	rs1163486953
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	rs587779204
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs)	rs1670123011
NM_000207.3(INS):c.-152C>G	rs748749585
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	rs397508104
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)	rs28928905
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC	rs1559558071
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)	rs63751711
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	rs727503263
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)	rs139794067
NM_000314.8(PTEN):c.1027-2A>G	rs1085308041
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)	rs1060500126
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)	rs587782350
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)	rs875989916
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)	rs137943601
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)	rs869320651
NM_000527.5(LDLR):c.1284del (p.Asn428fs)	rs2077409930
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)	rs773566855
NM_000527.5(LDLR):c.1358+2T>A	rs193922567
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)	rs373646964
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro)	rs879254968
NM_000527.5(LDLR):c.1705+1G>A	rs875989926
NM_000527.5(LDLR):c.1911del (p.Asp638fs)	rs867272973
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val)	rs879255143
NM_000527.5(LDLR):c.2140+1G>A	rs145787161
NM_000527.5(LDLR):c.227_233del (p.Gly76fs)	rs2147216927
NM_000527.5(LDLR):c.2416dup (p.Val806fs)	rs773618064
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)	rs377437226
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)	rs879254520
NM_000527.5(LDLR):c.467del (p.Asn156fs)	rs1057516135
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)	rs752596535
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)	rs557344672
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)	rs557344672
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)	rs879254597
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	rs121908027
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	rs121908028
NM_000527.5(LDLR):c.695-1G>A	rs879254652
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	rs2228671
NM_000535.7(PMS2):c.873del (p.Phe291fs)	rs1261282733
NM_000540.3(RYR1):c.1440+2T>G	rs1555767403
NM_000540.3(RYR1):c.14647-3_14647del	rs1568611362
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)	rs746971794
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)	rs2073465664
NM_000546.6(TP53):c.306del (p.Tyr103fs)	rs2543627479
NM_000546.6(TP53):c.818G>A (p.Arg273His)	rs28934576
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	rs730882008
NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)	rs1026632436
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	rs28934872
NM_000937.5(POLR2A):c.3275C>T (p.Ala1092Val)	rs2070664416
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp)	rs1329988533
NM_000937.5(POLR2A):c.4252G>A (p.Gly1418Arg)	rs2070711917
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg)	rs1388837601
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)	rs397517010
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)	rs397516457
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	rs45578238
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)	rs397516484
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter)	rs1165205177
NM_001943.5(DSG2):c.1826dup (p.Leu610fs)	rs1039633976
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)	rs1375081885
NM_001943.5(DSG2):c.2817del (p.Tyr940fs)	rs1567934773
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)	rs397516706
NM_001943.5(DSG2):c.512_516del (p.Leu171fs)	rs1568105371
NM_004168.4(SDHA):c.688del (p.Glu230fs)	rs1553998199
NM_004168.4(SDHA):c.944dup (p.Gly316fs)	rs1579402180
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)	rs387906618
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)	rs387906853
NM_007194.4(CHEK2):c.1461+1G>A	rs886039629
NM_007194.4(CHEK2):c.793-1G>A	rs730881687
NM_007194.4(CHEK2):c.846+4_846+7del	rs764884641
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)	rs80357164
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)	rs80356923
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_007294.4(BRCA1):c.4676-1G>A	rs80358008
NM_007294.4(BRCA1):c.4986+3G>C	rs80358023
NM_007294.4(BRCA1):c.4986+6T>G	rs80358086
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	rs80357104
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)	rs80357227
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)	rs1555461870
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)	rs747148023
NM_024675.4(PALB2):c.2748+1G>T	rs753153576
NM_024675.4(PALB2):c.3202-1G>A	rs515726111
NM_174936.4(PCSK9):c.644G>A (p.Arg215His)	rs794728683
NM_198282.4(STING1):c.842G>A (p.Arg281Gln)	rs1561482476
Single allele