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:

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
238 687 2 64 23 0 22 98

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 32 3 0 0
likely pathogenic 9 2 0 0 0
uncertain significance 12 12 0 13 6
benign 1 1 9 23 0

Submitter to submitter summary #

Total submitters: 44
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 28 0 6 9 0 9 24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 184 0 20 3 0 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 449 0 15 5 0 0 20
Quest Diagnostics Nichols Institute San Juan Capistrano 0 17 0 4 3 0 12 19
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 17 0 13 2 0 1 16
PreventionGenetics, part of Exact Sciences 0 14 0 10 2 0 3 15
Labcorp Genetics (formerly Invitae), Labcorp 0 689 0 13 0 0 1 14
Mayo Clinic Laboratories, Mayo Clinic 0 11 0 8 3 0 2 13
CeGaT Center for Human Genetics Tuebingen 0 13 0 9 2 0 1 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 26 0 7 2 0 2 11
Genetic Services Laboratory, University of Chicago 0 8 0 8 2 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 22 0 4 3 0 2 9
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 21 0 3 4 0 2 9
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 3 0 2 3 0 3 8
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 0 8 2 3 0 0 2 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 5 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 9 0 2 2 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 1 0 0 4
Eurofins Ntd Llc (ga) 0 10 0 3 1 0 0 4
CSER _CC_NCGL, University of Washington 0 3 0 0 3 0 0 3
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 13 0 2 1 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 9 0 2 1 0 0 3
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 1 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 0 0 0 2 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 10 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
Mendelics 0 50 0 0 2 0 0 2
CZECANCA consortium 0 0 0 0 0 0 1 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 4 0 0 0 0 1 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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 2 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 6 0 0 1 0 0 1
GeneKor MSA 0 51 0 0 0 0 1 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 0 0 0 0 0 1 1
Genetics Program, Instituto Nacional de Cancer 0 15 0 1 0 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 14 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
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 98
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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 0.00247
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_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00025
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_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 0.00005
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.5252G>A (p.Arg1751Gln) rs80357442 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.3G>A (p.Met1Ile) rs80358650 0.00001
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341 0.00001
NM_000059.4(BRCA2):c.517-2A>G rs81002858 0.00001
NM_000059.4(BRCA2):c.6413T>A (p.Val2138Asp) rs80358877 0.00001
NM_000059.4(BRCA2):c.681+1G>A rs398122565 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.5207T>C (p.Val1736Ala) rs45553935 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NC_000013.11:g.32337455dup rs886040460
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.1362del (p.Lys454fs) rs80359282
NM_000059.4(BRCA2):c.2731del (p.Glu911fs) rs80359344
NM_000059.4(BRCA2):c.2786del (p.Leu929fs) rs80359347
NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs) rs80359356
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.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7884dup (p.Trp2629fs) rs397507943
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.7977-3_7977-2delinsAG rs1135401921
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.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.9699_9702del (p.Cys3233fs) rs80359775
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.1356del (p.Glu453fs) rs80357939
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.1A>G (p.Met1Val) rs80357287
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.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.5534del (p.Tyr1845fs) rs1060505048
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.671-1G>T rs80358020
NM_007294.4(BRCA1):c.933del (p.Gly312fs) rs1135401839

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