ClinVar Miner

Variants from Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto with conflicting interpretations

Location: Canada  Primary collection method: research
Minimum review status of the submission from Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto: Collection method of the submission from Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto:
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
259 680 4 53 24 1 19 84

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
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance
pathogenic 0 22 1 0 0 0
likely pathogenic 9 0 0 0 0 1
uncertain significance 11 11 0 12 5 0
benign 1 1 11 22 4 0

Submitter to submitter summary #

Total submitters: 34
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 27 0 6 9 0 9 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 414 0 16 5 0 0 21
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 17 0 13 2 0 1 16
Quest Diagnostics Nichols Institute San Juan Capistrano 0 14 0 4 4 0 8 16
Invitae 0 667 0 13 0 1 1 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 99 0 9 5 0 0 14
PreventionGenetics, part of Exact Sciences 0 11 0 11 2 0 1 14
Mayo Clinic Laboratories, Mayo Clinic 0 5 0 8 2 0 1 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 26 0 7 2 0 2 11
Genetic Services Laboratory, University of Chicago 0 7 0 8 2 0 0 10
CeGaT Center for Human Genetics Tuebingen 0 10 0 7 2 0 0 9
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 5 4 2 2 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 18 0 6 1 0 1 8
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 3 0 2 3 0 3 8
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 20 0 3 3 0 1 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 17 0 2 2 0 1 5
Revvity Omics, Revvity 0 1 0 0 0 0 4 4
Eurofins Ntd Llc (ga) 0 10 0 3 1 0 0 4
Fulgent Genetics, Fulgent Genetics 0 5 0 2 1 0 1 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 1 0 0 4
CSER _CC_NCGL, University of Washington 0 3 0 0 3 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 9 0 2 1 0 0 3
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 13 0 2 1 0 0 3
Mendelics 0 65 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 2 0 1 0 0 1 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 1 0 0 0 1
GeneKor MSA 0 12 0 0 0 0 1 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 2 0 1 0 0 0 1
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 24 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 6 0 0 1 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 2 0 1 0 0 0 1
CZECANCA consortium 0 0 0 0 0 0 1 1
Genetics Program, Instituto Nacional de Cancer 0 15 0 1 0 0 0 1
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 29 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.9257-18C>A rs81002807 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.455T>C (p.Leu152Pro) rs80357275 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.2731del (p.Glu911fs) rs80359344
NM_000059.4(BRCA2):c.2786del (p.Leu929fs) rs80359347
NM_000059.4(BRCA2):c.2870del (p.Asn957fs) rs397507645
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.476-9dup rs276174849
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs) rs587781849
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs) rs80359650
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7977-3_7977-2delinsAG rs1135401921
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8924del (p.Val2975fs) rs397508020
NM_000059.4(BRCA2):c.8954-2A>C rs1135401928
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.212+10T>G rs80358174
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.671-18_671-16del rs398122354
NM_007294.4(BRCA1):c.933del (p.Gly312fs) rs1135401839

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