ClinVar Miner

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

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine: Collection method of the submission from Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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
234 172 0 108 2 8 31 131

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 risk factor
pathogenic 0 55 9 1 0 0 4
likely pathogenic 53 0 19 3 0 0 1
uncertain significance 1 0 0 0 2 0 0
risk factor 2 1 1 1 1 1 0

Submitter to submitter summary #

Total submitters: 60
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
Invitae 0 82 0 34 2 2 2 40
Counsyl 0 67 0 18 0 1 1 20
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 16 0 20 0 0 0 20
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 7 0 0 8 15
Integrated Genetics/Laboratory Corporation of America 0 32 0 14 0 0 0 14
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 12 0 13 0 0 0 13
Robarts Research Institute,Western University 0 11 0 12 0 0 1 13
OMIM 0 51 0 7 0 5 0 12
LDLR-LOVD, British Heart Foundation 0 34 0 11 0 0 1 12
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 14 0 11 0 0 0 11
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 8 0 5 0 0 4 9
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 8 0 6 0 0 3 9
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 14 0 8 0 0 1 9
Color Health, Inc 0 24 0 6 0 0 2 8
Institute of Human Genetics, University of Leipzig Medical Center 0 25 0 2 0 0 6 8
Fundacion Hipercolesterolemia Familiar 0 12 0 4 0 0 4 8
Illumina Clinical Services Laboratory,Illumina 0 5 0 5 0 1 1 7
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 12 0 5 0 0 2 7
Mendelics 0 17 0 4 0 1 0 5
Sharing Clinical Reports Project (SCRP) 0 64 0 5 0 0 0 5
Broad Institute Rare Disease Group, Broad Institute 0 6 0 3 0 0 2 5
GeneReviews 0 4 0 3 0 1 0 4
Breast Cancer Information Core (BIC) (BRCA1) 0 33 0 0 0 0 4 4
Iberoamerican FH Network 0 8 0 2 0 0 2 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 9 0 2 0 1 0 3
Natera, Inc. 0 14 0 2 0 0 1 3
Breast Cancer Information Core (BIC) (BRCA2) 0 35 0 1 0 0 2 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 19 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 0 3 0 0 0 3
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 12 0 2 0 1 0 3
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 1 0 0 1 2
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 1 0 1 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 1 0 1 0 2
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 1 0 0 0 0 2 2
Baylor Genetics 0 5 0 0 0 0 1 1
PreventionGenetics, PreventionGenetics 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 14 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 11 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 77 0 1 0 0 0 1
Pathway Genomics 0 12 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 3 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 4 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
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 1 0 0 0 0 1 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 7 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 0 0 0 0 1 1
Research and Development, ARUP Laboratories 0 0 0 1 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 9 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1 0 0 0 1
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 5 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 2 0 1 0 0 0 1
Myriad Women's Health, Inc. 0 2 0 1 0 0 0 1
Cardiology unit,Meyer University Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 131
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.4552del (p.Glu1518fs) rs398122783
NM_000059.3(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.3(BRCA2):c.8633-1G>A rs398122711
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9257-1G>C rs81002889
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
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.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000527.4(LDLR):c.-152C>T
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.695-1G>A rs879254652
NM_000527.5(LDLR):c.1061-1G>C rs879254774
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.2547+1G>A rs879255224
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys) rs397514997
NM_000548.5(TSC2):c.4570-1G>A rs777985056
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val) rs45517394
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg)
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001195800.2(LDLR):c.314-2019del rs1057516135
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_003242.6(TGFBR2):c.95-2A>G rs779131465
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.793-1G>A rs730881687
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.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024675.3(PALB2):c.2748+1G>T rs753153576
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.3(PALB2):c.3202-1G>A rs515726111
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_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_174936.3(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
Single allele

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