ClinVar Miner

Variants from Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research: Collection method of the submission from Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research:
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
6 95 6 40 58 3 20 97

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
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 2 14 8 3 2 3
likely pathogenic 5 0 4 4 2 0
uncertain significance 3 4 3 33 25 0
likely benign 1 0 13 0 7 0
benign 1 0 12 14 1 0

Submitter to submitter summary #

Total submitters: 52
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
Ambry Genetics 0 107 0 10 34 0 10 54
Color 0 87 0 15 33 0 6 54
Invitae 0 108 0 10 33 0 8 51
GeneDx 0 100 0 10 26 0 7 43
Counsyl 0 57 0 21 15 0 5 41
Sharing Clinical Reports Project (SCRP) 0 83 0 7 20 0 7 34
Integrated Genetics/Laboratory Corporation of America 0 84 0 6 14 0 4 24
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 94 0 7 10 0 6 23
Breast Cancer Information Core (BIC) (BRCA2) 0 56 0 4 11 0 5 20
Department of Pathology and Laboratory Medicine,Sinai Health System 0 107 0 1 14 0 3 18
Breast Cancer Information Core (BIC) (BRCA1) 0 63 0 1 9 0 6 16
PreventionGenetics 0 16 0 3 9 0 3 15
Illumina Clinical Services Laboratory,Illumina 0 3 0 6 7 0 2 15
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 75 0 7 3 0 5 15
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 10 0 6 5 0 2 13
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 4 1 5 0 2 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 25 0 3 5 0 4 12
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 27 0 2 8 0 1 11
Genetic Services Laboratory, University of Chicago 0 7 0 3 7 0 1 11
Michigan Medical Genetics Laboratories,University of Michigan 0 23 0 2 7 0 2 11
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 3 0 5 5 0 1 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 24 0 2 7 0 2 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 17 0 2 5 0 3 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 11 0 1 6 0 2 9
Quest Diagnostics Nichols Institute San Juan Capistrano 0 68 0 2 6 0 1 9
True Health Diagnostics 0 4 0 4 4 0 1 9
Mendelics 0 15 0 3 4 0 1 8
Pathway Genomics 0 6 0 3 4 0 1 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 25 0 3 2 0 2 7
Fulgent Genetics 0 11 0 2 3 0 2 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 25 0 2 4 0 1 7
CSER_CC_NCGL; University of Washington Medical Center 0 8 0 3 2 0 1 6
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 84 0 4 0 0 2 6
OMIM 0 16 0 0 0 3 2 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 3 0 0 1 4
GeneReviews 0 0 2 0 0 0 2 4
GeneKor MSA 0 22 0 2 1 0 1 4
Vantari Genetics 0 0 0 1 2 0 1 4
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 9 0 1 2 0 1 4
Baylor Miraca Genetics Laboratories, 0 15 0 1 1 0 1 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 1 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 1 0 1 3
Department of Medical Genetics,University Hospital of North Norway 0 0 0 0 1 0 1 2
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 6 0 1 0 0 1 2
Department of Pathology and Molecular Medicine,Queen's University 0 22 0 1 1 0 0 2
Division Human Genetics,Medical University Innsbruck 0 9 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 10 0 0 0 0 1 1
Department of Medical Genetics,Oslo University Hospital 0 22 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 1 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 0 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 0 0 0 0 1 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 12 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 97
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1244A>G (p.His415Arg) rs80358417
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718
NM_000059.3(BRCA2):c.316+5G>A rs81002840
NM_000059.3(BRCA2):c.3225T>C (p.Ser1075=) rs779228375
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) rs80359388
NM_000059.3(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.3(BRCA2):c.3G>T (p.Met1Ile) rs80358650
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506
NM_000059.3(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698
NM_000059.3(BRCA2):c.475+3A>T rs81002795
NM_000059.3(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5663A>G (p.Lys1888Arg) rs80358791
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) rs374620036
NM_000059.3(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.6761T>A (p.Phe2254Tyr) rs786202915
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6938-2A>G rs81002863
NM_000059.3(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.3(BRCA2):c.7008-2A>T rs81002823
NM_000059.3(BRCA2):c.7021C>T (p.Arg2341Cys) rs41293505
NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.3(BRCA2):c.708T>C (p.His236=) rs185506536
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.7992T>A (p.Ile2664=) rs80359800
NM_000059.3(BRCA2):c.8010G>A (p.Ser2670=) rs146430937
NM_000059.3(BRCA2):c.8084C>T (p.Ser2695Leu) rs80359048
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136
NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.3(BRCA2):c.9235delG (p.Val3079Phefs) rs397507422
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.3(BRCA2):c.9501+3A>T rs61757642
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.3(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
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.-86C>T rs143160357
NM_007294.3(BRCA1):c.1065G>A (p.Lys355=) rs41286292
NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.3(BRCA1):c.2109A>G (p.Thr703=) rs4986844
NM_007294.3(BRCA1):c.212+3A>G rs80358083
NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.3(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.3(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.3(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691
NM_007294.3(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.5074+6C>G rs80358032
NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.3(BRCA1):c.548-9delA rs273902774
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942
NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.3(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.3(BRCA1):c.754C>T (p.Arg252Cys) rs273902786
NM_007299.3(BRCA1):c.787+11_787+12delTT rs80357724

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