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
58 47 0 7 4 0 5 14

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
pathogenic 0 6 2 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 1 2 0 3 1

Submitter to submitter summary #

Total submitters: 18
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 22 0 2 4 0 2 8
Counsyl 0 26 0 2 0 0 1 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
Mendelics 0 10 0 0 0 0 1 1
LDLR-LOVD, British Heart Foundation 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 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
Color Health, Inc 0 0 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
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

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_002878.3(RAD51D):c.26G>C (p.Cys9Ser) rs140825795
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu) rs1060502713
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471
NM_007294.4(BRCA1):c.4986+6T>C rs80358086
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.3(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034

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