ClinVar Miner

Variants from Database of Curated Mutations (DoCM) with conflicting interpretations

Location: United States — Primary collection method: literature only
Minimum review status of the submission from Database of Curated Mutations (DoCM): Collection method of the submission from Database of Curated Mutations (DoCM):
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
1092 69 1 79 0 3 10 92

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
Database of Curated Mutations (DoCM) pathogenic likely pathogenic uncertain significance likely benign other
pathogenic 0 29 0 0 0
likely pathogenic 76 1 10 2 3

Submitter to submitter summary #

Total submitters: 38
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
OMIM 0 13 0 26 0 0 0 26
Database of Curated Mutations (DoCM) 1191 36 0 26 0 0 0 26
Invitae 0 3 0 9 0 0 9 18
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 20 0 9 0 0 0 9
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 0 0 0 5 0 0 0 5
Counsyl 0 1 0 3 0 0 2 5
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 0 0 0 5 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 0 4 0 0 0 4
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 3 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 0 3 0 0 0 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 3 0 3
ClinGen RASopathy Variant Curation Expert Panel 0 0 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 2 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 0 0 0 2 0 0 0 2
Research and Development, ARUP Laboratories 0 0 0 2 0 0 0 2
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 5 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Mendelics 0 4 0 0 0 0 1 1
GeneReviews 0 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Blueprint Genetics 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Genomic Medicine Laboratory,University of Vermont Medical Center 0 0 0 1 0 0 0 1
3DMed Clinical Laboratory Inc 0 0 0 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 1 0 0 0 1
Hematopathology,The University of Texas M.D. Anderson Cancer Center 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 92
Download table as spreadsheet
HGVS dbSNP
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000222.2(KIT):c.1670G>C (p.Trp557Ser) rs1057520032
NM_000222.2(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.2(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.2(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.3(KIT):c.2447A>T rs121913507
NM_000222.3(KIT):c.2466T>A rs121913514
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1654C>T rs121913303
NM_000321.3(RB1):c.958C>T rs121913300
NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) rs587778695
NM_000455.4(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.323A>G (p.Lys108Arg) rs1057520040
NM_000455.4(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.4(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.4(STK11):c.971C>T (p.Pro324Leu) rs367807476
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.422G>T rs587781288
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_001354689.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_001374258.1(BRAF):c.1517G>T (p.Gly506Val) rs121913351
NM_001374258.1(BRAF):c.1900G>A (p.Asp634Asn) rs397516896
NM_001374258.1(BRAF):c.1901A>G (p.Asp634Gly) rs121913338
NM_001374258.1(BRAF):c.1910T>A (p.Leu637Gln) rs121913366
NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) rs113488022
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) rs1057519742
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002944.2(ROS1):c.6094G>A (p.Gly2032Arg) rs1057519788
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) rs121913457
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) rs1553906053
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) rs377767429
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832

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