ClinVar Miner

Variants from deCODE genetics, Amgen with conflicting interpretations

Location: Iceland  Primary collection method: research
Minimum review status of the submission from deCODE genetics, Amgen: Collection method of the submission from deCODE genetics, Amgen:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
93 26 1 63 0 1 10 70

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
deCODE genetics, Amgen pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 1 15 1 0 1 1
likely pathogenic 48 0 8 1 0 0

Submitter to submitter summary #

Total submitters: 94
Download table as spreadsheet
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 14 1 21 0 0 2 24
Myriad Genetics, Inc. 0 12 0 15 0 0 0 15
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 5 0 7 0 0 1 8
Baylor Genetics 0 10 0 6 0 0 1 7
All of Us Research Program, National Institutes of Health 0 5 0 3 0 0 3 6
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 5 0 6 0 0 0 6
3billion 0 3 0 5 0 0 0 5
Genome-Nilou Lab 0 0 0 5 0 0 0 5
Sharing Clinical Reports Project (SCRP) 0 3 0 5 0 0 0 5
BRCAlab, Lund University 0 1 0 3 0 0 1 4
Breast Cancer Information Core (BIC) (BRCA2) 0 1 0 4 0 0 0 4
Center for Medical Genetics Ghent, University of Ghent 0 1 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 6 0 4 0 0 0 4
OMIM 0 7 0 3 0 0 1 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 7 0 4 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 2 0 0 1 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 3 0 0 0 3
Department of Medical Genetics, Oslo University Hospital 0 1 0 2 0 0 1 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 3 0 0 0 3
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 0 0 3 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 6 0 3 0 0 0 3
MGZ Medical Genetics Center 0 4 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 0 2 0 0 1 3
Centre of Medical Genetics, University Hospital Muenster 0 0 0 2 0 0 0 2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 0 0 1 0 0 1 2
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 2 0 0 0 2
Color Diagnostics, LLC DBA Color Health 0 3 0 1 0 0 1 2
Counsyl 0 7 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 2 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 1 0 2 0 0 0 2
Mendelics 0 3 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 4 0 2 0 0 0 2
Variantyx, Inc. 0 6 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 3 0 0 0 0 1 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 0 0 1 0 0 0 1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 0 0 0 1 0 0 0 1
Cardiology unit, Meyer University Hospital 0 0 0 1 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 1 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 0 0 1 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 6 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 1 0 0 0 1
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 2 0 1 0 0 0 1
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
ClinPGx 0 0 0 0 0 1 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 1 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 1 0 0 0 1
Geisinger Clinic, Geisinger Health System 0 0 0 1 0 0 0 1
GeneDx 0 1 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 2 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
Genologica Medica 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 0 1
Genomenon, Inc, Genomenon, Inc 0 1 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 2 0 1 0 0 0 1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 1 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 5 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 0 0 1 0 0 0 1
Michigan Medical Genetics Laboratories, University of Michigan 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 2 0 1 0 0 0 1
Molecular Oncology, Hospital Universitario Central de Asturias (HUCA) 0 1 0 1 0 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 2 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 1 0 0 0 1
Oasi Research Institute-IRCCS 0 0 0 1 0 0 0 1
Pathway Genomics 0 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 1 0 0 0 1
Robarts Research Institute, Western University 0 2 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 2 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe) rs120074180 0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) rs769370816 0.00001
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter) rs121908035 0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358 0.00001
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs) rs774319202 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn) rs778738291 0.00001
NM_000038.6(APC):c.2803dup (p.Tyr935fs) rs2533450703
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3724C>T (p.Gln1242Ter) rs1460397656
NM_000038.6(APC):c.6474del (p.Phe2159fs) rs1561607463
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs) rs1766600757
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs) rs80359293
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter) rs397507296
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter) rs886040685
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr) rs1555399836
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr) rs1555398627
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035
NM_000169.3(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.3(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs) rs752540976
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000251.3(MSH2):c.1613dup (p.Asn538fs) rs1558511092
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter) rs1057520735
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000535.7(PMS2):c.211_214del (p.Asn71fs) rs1562695294
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000546.6(TP53):c.148dup (p.Ile50fs) rs1567556956
NM_000546.6(TP53):c.430C>T (p.Gln144Ter) rs757274881
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.96+1G>C rs1131691003
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter) rs45517112
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) rs1830383454
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter) rs2142444897
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) rs1555461627

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.