ClinVar Miner

Variants from Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation with conflicting interpretations

Location: Czechia  Primary collection method: clinical testing
Minimum review status of the submission from Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation: Collection method of the submission from Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation:
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
25 55 0 96 11 0 45 121

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
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 19 3 2 1
likely pathogenic 72 0 28 5 0
uncertain significance 4 4 0 4 3
likely benign 3 3 4 0 1
benign 1 0 2 4 0

Submitter to submitter summary #

Total submitters: 82
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 45 0 64 5 0 8 77
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 18 0 52 2 0 5 59
Color Diagnostics, LLC DBA Color Health 0 30 0 33 5 0 9 47
All of Us Research Program, National Institutes of Health 0 21 0 27 3 0 10 40
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 22 0 23 3 0 13 39
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 16 0 36 0 0 3 39
Natera, Inc. 0 25 0 28 2 0 7 37
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 16 0 33 1 0 3 37
LDLR-LOVD, British Heart Foundation 0 133 0 12 4 0 12 28
Revvity Omics, Revvity 0 19 0 25 1 0 2 28
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 8 0 25 1 0 1 27
Fundacion Hipercolesterolemia Familiar 0 21 0 10 2 0 10 22
Institute of Human Genetics, University of Leipzig Medical Center 0 9 0 17 1 0 4 22
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 11 0 16 0 0 1 17
Fulgent Genetics, Fulgent Genetics 0 7 0 14 0 0 2 16
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 23 0 15 0 0 1 16
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 14 0 13 0 0 2 15
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 11 0 13 0 0 0 13
Robarts Research Institute, Western University 0 27 0 10 1 0 2 13
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 21 0 8 1 0 3 12
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 45 0 3 3 0 6 12
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 24 0 7 1 0 4 12
Iberoamerican FH Network 0 11 0 6 0 0 4 10
Illumina Laboratory Services, Illumina 0 6 0 8 2 0 0 10
OMIM 0 3 0 10 0 0 0 10
GENinCode PLC 0 7 0 8 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 0 7 0 8 0 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 0 3 0 0 3 6
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 2 0 3 2 0 1 6
3billion 0 5 0 5 0 0 0 5
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 5 0 5 0 0 0 5
Institute for Integrative and Experimental Genomics, University of Luebeck 0 3 0 2 0 0 3 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 4 0 3 0 0 1 4
Institute of Human Genetics Munich, TUM University Hospital 0 3 0 3 0 0 1 4
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 5 0 2 0 0 2 4
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 16 0 3 0 0 1 4
Medical and Scientific Branch, Hong Kong Genome Institute 0 0 0 4 0 0 0 4
Variantyx, Inc. 0 4 0 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 1 0 0 2 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 3 0 0 0 3
Mendelics 0 1 0 1 0 0 2 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 0 3 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 0 2
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 2 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 1 0 0 1 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 2 0 0 0 2
MGZ Medical Genetics Center 0 3 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 2 0 1 0 0 1 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 0 1 0 0 1 2
Arcensus 0 2 0 1 0 0 0 1
Baylor Genetics 0 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 0 1 0 0 0 1
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 0 1 0 0 0 0 1 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 2 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 1 0 0 0 1
New York Genome Center 0 3 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 0 0 1 0 0 0 1
Suma Genomics 0 0 0 1 0 0 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 121
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) rs11669576 0.08075
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile) rs45508991 0.00495
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln) rs137853963 0.00066
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys) rs148698650 0.00038
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys) rs879254934 0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00005
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00005
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.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg) rs144614838 0.00003
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) rs137929307 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.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000527.5(LDLR):c.-153C>T rs879254366 0.00002
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00002
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg) rs150021927 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000527.5(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp) rs570942190 0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met) rs28942078 0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr) rs28942079 0.00001
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) rs769370816 0.00001
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser) rs879255034 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter) rs121908031 0.00001
NM_000527.5(LDLR):c.2059A>T (p.Ile687Phe) rs1060499932 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600 0.00001
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906 0.00001
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter) rs121908035 0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) rs879254682 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.4(LDLR):c.-140C>A rs875989887
NM_000527.4(LDLR):c.67+3968_940+296dup
NM_000527.5(LDLR):c.-149C>A rs879254368
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr) rs879254754
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del) rs879254830
NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro) rs552422789
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys) rs879255038
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+1G>T rs879255049
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr) rs879255136
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.5(LDLR):c.2140+2T>C rs879255147
NM_000527.5(LDLR):c.2311+1941_*1216dup
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.5(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.314-446_1187-386dup
NM_000527.5(LDLR):c.388T>C (p.Ser130Pro) rs879254508
NM_000527.5(LDLR):c.3G>T (p.Met1Ile) rs879254383
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.515A>G (p.Asp172Gly) rs879254555
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln) rs121908029
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.5(LDLR):c.940+1G>C rs879254729
NM_000527.5(LDLR):c.947A>C (p.Asn316Thr) rs730882094
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe) rs879254739
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_000527.5(LDLR):c.981C>A (p.His327Gln) rs1060499933

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