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 Variants with at least 2 submissions 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 kind of conflict
54 796 8 121 35 6 51 173

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 risk factor other
pathogenic 4 88 20 0 0 5 1
likely pathogenic 9 0 7 0 0 0 0
uncertain significance 17 13 0 12 7 0 0
benign 2 1 22 24 4 0 0

Submitter to submitter summary #

Total submitters: 59
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Counsyl 0 192 0 49 3 0 4 56
Color 0 372 0 30 11 0 11 52
GeneDx 0 427 0 17 8 0 9 34
Invitae 0 381 0 15 8 0 8 31
Ambry Genetics 0 529 0 17 2 0 10 29
Breast Cancer Information Core (BIC) (BRCA1) 0 340 0 2 11 0 13 26
Sharing Clinical Reports Project (SCRP) 0 453 0 13 5 0 7 25
Integrated Genetics/Laboratory Corporation of America 0 299 0 14 4 0 4 22
Department of Pathology and Laboratory Medicine,Sinai Health System 0 199 0 13 4 0 3 20
Quest Diagnostics Nichols Institute San Juan Capistrano 0 337 0 12 1 0 6 19
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 704 0 7 0 0 12 19
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 75 0 7 3 0 5 15
Breast Cancer Information Core (BIC) (BRCA2) 0 318 0 0 7 0 8 15
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 57 0 8 2 0 3 13
PreventionGenetics 0 30 0 9 2 0 1 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 79 0 5 5 0 0 10
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 16 0 7 2 0 1 10
Genetic Services Laboratory, University of Chicago 0 15 0 7 2 0 0 9
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 21 0 8 1 0 0 9
OMIM 0 39 0 2 0 5 1 8
Biesecker Lab/Human Development Section,National Institutes of Health 0 5 4 2 2 0 0 8
Illumina Clinical Services Laboratory,Illumina 0 8 0 7 1 0 0 8
CSER_CC_NCGL; University of Washington Medical Center 0 10 0 2 6 0 0 8
Mendelics 0 67 0 4 1 0 2 7
True Health Diagnostics 0 11 0 6 1 0 0 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 36 0 5 1 0 0 6
GeneReviews 0 0 4 1 0 0 1 6
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 828 0 2 3 0 1 6
Pathway Genomics 0 20 0 4 1 0 1 6
Department of Medical Genetics,Oslo University Hospital 0 115 0 3 0 0 3 6
Fulgent Genetics 0 38 0 3 1 0 1 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 31 0 2 1 0 1 4
Michigan Medical Genetics Laboratories,University of Michigan 0 73 0 3 1 0 0 4
GeneKor MSA 0 91 0 3 0 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 63 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 4 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 2 0 0 0 2
Department of Medical Genetics,University Hospital of North Norway 0 3 0 0 1 0 1 2
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 24 0 0 1 0 1 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 73 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 3 0 0 1 0 0 1
Genologica Medica 0 27 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology 0 9 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 1 0 0 0 1
Dr. Peter K. Rogan Lab,Western University 0 0 0 0 1 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 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
Vantari Genetics 0 6 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 0 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 20 0 0 1 0 0 1
Clinical Molecular and Personalized Diagnostics,Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital Agostino Gemelli Foundation 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 86 0 0 0 0 1 1
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital 0 0 0 1 0 0 0 1
3DMed Clinical Laboratory Inc 0 14 0 1 0 0 0 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 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
University of Washington Department of Laboratory Medicine,University of Washington 0 18 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 173
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.10095delCinsGAATTATATCT (p.Ser3366Asnfs) rs276174803
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1054dupT (p.Tyr352Leufs) rs80359261
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1354C>A (p.Leu452Ile) rs80358424
NM_000059.3(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.3(BRCA2):c.2254_2257delGACT (p.Asp752Phefs) rs80359326
NM_000059.3(BRCA2):c.2380dupA (p.Met794Asnfs) rs730881602
NM_000059.3(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.3(BRCA2):c.2731delG (p.Glu911Lysfs) rs80359344
NM_000059.3(BRCA2):c.2743_2747delACTTG (p.Thr915Cysfs) rs786204752
NM_000059.3(BRCA2):c.2786delT (p.Leu929Tyrfs) rs80359347
NM_000059.3(BRCA2):c.2870delA (p.Asn957Ilefs) rs397507645
NM_000059.3(BRCA2):c.3167_3170delAAAA (p.Gln1056Argfs) rs80359372
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3859_3860delAA (p.Asn1287Terfs) rs80359406
NM_000059.3(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_000059.3(BRCA2):c.3G>T (p.Met1Ile) rs80358650
NM_000059.3(BRCA2):c.4003G>T (p.Glu1335Ter) rs747070579
NM_000059.3(BRCA2):c.4127_4130delGAAA (p.Gly1376Alafs) rs397507323
NM_000059.3(BRCA2):c.4258delG (p.Asp1420Ilefs) rs80359436
NM_000059.3(BRCA2):c.426-12_426-8del5 rs276174844
NM_000059.3(BRCA2):c.4284dupT (p.Gln1429Serfs) rs80359439
NM_000059.3(BRCA2):c.4405_4409delGACAT (p.Asp1469Lysfs) rs397507331
NM_000059.3(BRCA2):c.4478_4481delAAAG (p.Glu1493Valfs) rs80359454
NM_000059.3(BRCA2):c.4554delA (p.Glu1518Aspfs) rs80359458
NM_000059.3(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.3(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.3(BRCA2):c.469_470delAA (p.Lys157Valfs) rs397507739
NM_000059.3(BRCA2):c.476-9_476-8insT rs276174849
NM_000059.3(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.5362dupT (p.Ser1788Phefs) rs587781849
NM_000059.3(BRCA2):c.5616_5620delAGTAA (p.Lys1872Asnfs) rs80359525
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.3(BRCA2):c.5851_5854delAGTT (p.Ser1951Trpfs) rs80359543
NM_000059.3(BRCA2):c.5862_5863delTT (p.Ser1955Argfs) rs786202700
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6393delA (p.Lys2131Asnfs) rs886038145
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.681+1G>A rs398122565
NM_000059.3(BRCA2):c.682-1G>C rs81002831
NM_000059.3(BRCA2):c.6944_6947delTAAA (p.Ile2315Lysfs) rs80359629
NM_000059.3(BRCA2):c.6980delT (p.Leu2327Terfs) rs879255306
NM_000059.3(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.3(BRCA2):c.7414_7415delAA (p.Lys2472Valfs) rs80359650
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7471delC (p.Gln2491Argfs) rs886038170
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) rs80359671
NM_000059.3(BRCA2):c.7805+3A>C rs81002810
NM_000059.3(BRCA2):c.7806-2A>G rs81002836
NM_000059.3(BRCA2):c.7806-9T>G rs397507939
NM_000059.3(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.3(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7976+5G>A rs786201180
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.7977-3_7977-2delinsAG rs1135401921
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8145delA (p.Val2716Trpfs) rs1135401923
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8229_8243del15 (p.Arg2744_Gly2748del) rs80359698
NM_000059.3(BRCA2):c.8331+2T>C rs398122602
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8924delT (p.Val2975Glufs) rs397508020
NM_000059.3(BRCA2):c.8954-5A>G rs886040949
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9257-18C>A rs81002807
NM_000059.3(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194
NM_000059.3(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000059.3(BRCA2):c.9699_9702delTATG (p.Cys3233Trpfs) rs80359775
NM_000059.3(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.3(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1407_1408delAA (p.Ser470Profs) rs879255476
NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs) rs80357888
NM_007294.3(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.3(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.3(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly) rs80357064
NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.212+10T>G rs80358174
NM_007294.3(BRCA1):c.212+3A>G rs80358083
NM_007294.3(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.3(BRCA1):c.2679_2682delGAAA (p.Lys893Asnfs) rs80357596
NM_007294.3(BRCA1):c.3228_3229delAG (p.Gly1077Alafs) rs80357635
NM_007294.3(BRCA1):c.3342_3345delAGAA (p.Glu1115Terfs) rs397509058
NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.3(BRCA1):c.3629dupA (p.Ser1211Valfs) rs886040154
NM_007294.3(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.3(BRCA1):c.3916_3917delTT (p.Leu1306Aspfs) rs80357678
NM_007294.3(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4185+2_4185+22del21insA rs273900724
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4675+3A>T rs80358082
NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+4A>C rs80358087
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.4987-5T>C rs397509214
NM_007294.3(BRCA1):c.5062_5064delGTT (p.Val1688del) rs80358344
NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.3(BRCA1):c.5074+1G>T rs80358053
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5074+3A>G rs80358181
NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5194-2A>G rs80358069
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.3(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.3(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.3(BRCA1):c.547+1G>T rs80358030
NM_007294.3(BRCA1):c.547+2T>A rs80358047
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.3(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.3(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.3(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.671-18_671-16delATT rs398122354
NM_007294.3(BRCA1):c.671-1G>T rs80358020
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.827C>G (p.Thr276Arg) rs80357436
NM_007294.3(BRCA1):c.933delT (p.Gly312Alafs) rs1135401839
NM_007299.3(BRCA1):c.787+11_787+12delTT rs80357724

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