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 Variants with at least 2 submissions 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 kind of conflict
8 74 4 103 0 18 45 123

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 affects association drug response risk factor other
pathogenic 4 55 15 1 1 1 1 3 13 2
likely pathogenic 48 0 27 3 0 0 0 0 0 0
risk factor 3 3 3 2 2 0 0 0 0 1

Submitter to submitter summary #

Total submitters: 79
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 127 0 30 0 2 4 36
GeneDx 0 114 0 26 0 1 5 32
OMIM 0 35 0 9 0 16 0 25
Integrated Genetics/Laboratory Corporation of America 0 66 0 18 0 2 4 24
Ambry Genetics 0 98 0 17 0 2 2 21
Counsyl 0 44 0 18 0 1 1 20
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 58 0 11 0 2 3 16
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 7 0 16 0 0 0 16
CSER _CC_NCGL, University of Washington 0 12 0 2 0 1 10 13
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 4 0 11 0 0 0 11
Illumina Clinical Services Laboratory,Illumina 0 9 0 5 0 2 4 11
GeneReviews 0 5 4 5 0 1 0 10
Color 0 82 0 3 0 1 6 10
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 7 0 9 0 0 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 21 0 4 0 2 1 7
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 8 0 1 0 0 6 7
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 5 0 3 0 0 3 6
Robarts Research Institute,Western University 0 8 0 5 0 0 1 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 31 0 2 0 2 1 5
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 3 0 2 0 0 3 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 2 2 5
Mendelics 0 22 0 3 0 1 0 4
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 15 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 31 0 3 0 1 0 4
Fundacion Hipercolesterolemia Familiar 0 7 0 1 0 0 3 4
Athena Diagnostics Inc 0 6 0 3 0 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 6 0 0 0 2 1 3
PreventionGenetics,PreventionGenetics 0 12 0 2 0 1 0 3
Sharing Clinical Reports Project (SCRP) 0 38 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 58 0 2 0 1 0 3
Blueprint Genetics 0 8 0 2 0 0 1 3
PharmGKB 0 0 0 0 0 3 0 3
LDLR-LOVD, British Heart Foundation 0 23 0 3 0 0 0 3
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 2 0 0 1 3
GeneKor MSA 0 22 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 2 0 1 0 3
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 9 0 2 0 0 1 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 1 0 1 0 2
Fulgent Genetics,Fulgent Genetics 0 27 0 2 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 0 4 0 2 0 0 0 2
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 9 0 2 0 0 0 2
PALB2 database 0 0 0 0 0 0 2 2
Breast Cancer Information Core (BIC) (BRCA1) 0 15 0 0 0 0 2 2
Breast Cancer Information Core (BIC) (BRCA2) 0 23 0 0 0 0 2 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 3 0 1 0 1 0 2
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 0 0 2 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 0 1 0 1 0 2
Database of Curated Mutations (DoCM) 0 2 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 0 0 0 2 2
Iberoamerican FH Network 0 5 0 1 0 0 1 2
University of Washington Department of Laboratory Medicine, University of Washington 0 12 0 2 0 0 0 2
Center for Human Genetics, Inc 0 4 0 0 0 1 0 1
Genetic Services Laboratory, University of Chicago 0 10 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 10 0 1 0 0 0 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 10 0 0 0 0 1 1
Science for Life laboratory, Karolinska Institutet 0 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 41 0 1 0 0 0 1
Pathway Genomics 0 11 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 4 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 0 1
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 1 0 0 0 0 1 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 0 0 1 0 1
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 44 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 0 1
Research and Development, ARUP Laboratories 0 3 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 1 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 6 0 1 0 0 0 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 11 0 1 0 0 0 1
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 1 0 1 0 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 0 0 1 0 1
Reproductive Health Research and Development,BGI Genomics 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: 123
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.3(BRCA2):c.4552del (p.Glu1518fs) rs398122783
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.6842-2A>G rs1555285132
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
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_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000138.4(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000249.3(MLH1):c.116+1G>A rs267607709
NM_000249.3(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000258.2(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000314.7(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242
NM_000364.4(TNNT2):c.641_643AGA[3] (p.Lys217del) rs45578238
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000527.4(LDLR):c.1056_1060+3del rs879254770
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.4(LDLR):c.1705+1G>A rs875989926
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.2029T>C (p.Cys677Arg) rs775092314
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(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_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.2(RYR1):c.7361G>A (p.Arg2454His) rs118192122
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001126112.2(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195800.2(LDLR):c.314-2019del rs1057516135
NM_001281492.1(MSH6):c.2871dup (p.Phe958fs) rs267608078
NM_001330368.2(C11orf65):c.641-22822_641-22814del rs587776547
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.1821dup (p.Val608fs) rs397517010
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
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_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024675.3(PALB2):c.172_175delTTGT rs180177143
NM_024675.3(PALB2):c.2411_2412delCT rs747148023
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_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.107del (p.Leu36fs) rs397508112
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.395G>A (p.Arg132His) rs199472720
NM_181798.1(KCNQ1):c.44del (p.Leu15fs) rs794728566
NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) rs193922365
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) rs199473220
NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val) rs199473266
NM_198056.2(SCN5A):c.4886G>A (p.Arg1629Gln) rs199473623
NM_198056.2(SCN5A):c.673C>T (p.Arg225Trp) rs199473072

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