ClinVar Miner

Variants from Division of Medical Genetics, University of Washington with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Division of Medical Genetics, University of Washington: Collection method of the submission from Division of Medical Genetics, University of Washington:
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
26 61 0 11 15 1 8 32

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
Division of Medical Genetics, University of Washington pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 0 8 3 0 0 1
likely pathogenic 3 0 1 0 0 0
uncertain significance 2 4 0 14 1 0

Submitter to submitter summary #

Total submitters: 35
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 28 0 2 6 0 2 10
Myriad Genetics, Inc. 0 23 0 1 6 0 3 10
Counsyl 0 26 0 2 0 0 1 3
All of Us Research Program, National Institutes of Health 0 13 0 0 3 0 0 3
Baylor Genetics 0 36 0 0 0 0 2 2
Color Diagnostics, LLC DBA Color Health 0 0 0 2 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 0 0 0 1 1
Ambry Genetics 0 1 0 0 1 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 0 1 1
MGZ Medical Genetics Center 0 4 0 0 0 0 1 1
Mendelics 0 8 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 4 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 2 0 0 1 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 1 0 1 0 0 0 1
Robarts Research Institute, Western University 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 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 6 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 0 0 0 1 1
Leiden Open Variation Database 0 2 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 5 0 0 0 0 1 1
deCODE genetics, Amgen 0 1 0 1 0 0 0 1
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 1 0 0 1 0 0 1
Genome-Nilou Lab 0 1 0 1 0 0 0 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 0 0 0 0 0 1 1
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 0 1 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1
BRCAlab, Lund University 0 5 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00021
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122 0.00014
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) rs141396559 0.00012
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn) rs200104963 0.00009
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys) rs17882252 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925 0.00002
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp) rs80358667 0.00001
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln) rs587778917 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000546.6(TP53):c.245C>T (p.Pro82Leu) rs534447939 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala) rs2053696720
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133

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