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
329 613 4 53 22 0 17 81

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 0 26 2 0 0
likely pathogenic 7 0 1 0 0
uncertain significance 6 8 0 10 4
benign 1 1 12 20 4

Submitter to submitter summary #

Total submitters: 23
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 21 0 6 7 0 7 20
Integrated Genetics/Laboratory Corporation of America 0 360 0 15 3 0 0 18
Invitae 0 599 0 15 0 0 2 17
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 99 0 9 5 0 0 14
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 14 0 8 2 0 1 11
PreventionGenetics, PreventionGenetics 0 10 0 9 2 0 0 11
Quest Diagnostics Nichols Institute San Juan Capistrano 0 13 0 2 2 0 7 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 26 0 7 2 0 2 11
Mayo Clinic Laboratories, Mayo Clinic 0 5 0 8 1 0 0 9
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 5 4 2 2 0 0 8
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 3 0 2 3 0 3 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 6 1 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 15 0 4 2 0 0 6
Genetic Services Laboratory, University of Chicago 0 5 0 3 2 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 10 0 3 1 0 0 4
CSER _CC_NCGL, University of Washington 0 3 0 0 3 0 0 3
Mendelics 0 65 0 2 0 0 0 2
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
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 2 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 1 0 0 0 1
CZECANCA consortium 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 81
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.2731del (p.Glu911fs) rs80359344
NM_000059.3(BRCA2):c.2786del (p.Leu929fs) rs80359347
NM_000059.3(BRCA2):c.2870del (p.Asn957fs) rs397507645
NM_000059.3(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.3(BRCA2):c.476-9dup rs276174849
NM_000059.3(BRCA2):c.5362dup (p.Ser1788fs) rs587781849
NM_000059.3(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.3(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.3(BRCA2):c.7414_7415del (p.Lys2472fs) rs80359650
NM_000059.3(BRCA2):c.8924del (p.Val2975fs) rs397508020
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) rs80358871
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.4(BRCA2):c.67+2T>G rs81002885
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7435+6G>A rs81002852
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.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
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.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.9257-18C>A rs81002807
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
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.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.212+10T>G rs80358174
NM_007294.4(BRCA1):c.212+3A>G rs80358083
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4485-1G>A rs80358189
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
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.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
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.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.4(BRCA1):c.594-2A>C rs80358033
NM_007294.4(BRCA1):c.933del (p.Gly312fs) rs1135401839

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