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
17 65 3 14 18 0 1 28

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 uncertain significance likely benign benign
pathogenic 0 1 0 0
likely pathogenic 1 0 0 0
uncertain significance 0 0 8 1
likely benign 0 2 0 2
benign 0 7 11 3

Submitter to submitter summary #

Total submitters: 19
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 16 0 3 9 0 0 12
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 7 0 5 1 0 1 7
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 3 1 3 0 0 7
Integrated Genetics/Laboratory Corporation of America 0 51 0 2 5 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 14 0 3 2 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 13 0 0 5 0 0 5
PreventionGenetics, PreventionGenetics 0 10 0 3 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 3 1 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 12 0 4 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 18 0 1 2 0 0 3
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 12 0 2 1 0 0 3
Invitae 0 50 0 2 0 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 Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 4 0 0 1 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.4(BRCA2):c.9257-15T>C rs1135401940
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_007294.3(BRCA1):c.81-?_134+?del
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756
NM_007294.4(BRCA1):c.81-14C>T rs80358006

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