ClinVar Miner

Variants from Department of Pathology and Molecular Medicine, Queen's University with conflicting interpretations

Location: Canada  Primary collection method: clinical testing
Minimum review status of the submission from Department of Pathology and Molecular Medicine, Queen's University: Collection method of the submission from Department of Pathology and Molecular Medicine, Queen's University:
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
14 66 3 17 19 0 1 30

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
Department of Pathology and Molecular Medicine, Queen's University pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 0 0 0
uncertain significance 0 1 0 10 5
likely benign 0 0 2 0 3
benign 0 0 6 13 3

Submitter to submitter summary #

Total submitters: 27
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
GeneDx 0 20 0 3 10 0 1 14
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 13 0 6 3 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 55 0 3 6 0 0 9
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 3 1 3 0 0 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 16 0 1 6 0 0 7
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 8 0 4 3 0 0 7
CeGaT Center for Human Genetics Tuebingen 0 5 0 6 1 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 15 0 4 2 0 0 6
PreventionGenetics, part of Exact Sciences 0 13 0 3 3 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 4 0 5 0 0 0 5
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 10 0 3 2 0 0 5
Genetic Services Laboratory, University of Chicago 0 6 0 3 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 4 0 3 1 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 12 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 30 0 2 1 0 0 3
Fulgent Genetics, Fulgent Genetics 0 2 0 2 1 0 0 3
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 12 0 2 1 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3 0 2 1 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 1 0 0 2
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 2 0 1 1 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 0 2 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 5 0 1 1 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 13 0 1 1 0 0 2
Invitae 0 54 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 9 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 2 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550 0.00006
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171 0.00003
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994 0.00002
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756 0.00002
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030 0.00001
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.68-7del rs276174878
NM_000059.4(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_007294.3(BRCA1):c.81-?_134+?del
NM_007294.4(BRCA1):c.81-14C>T rs80358006

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