ClinVar Miner

Variants from Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency: Collection method of the submission from Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency:
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
8 50 19 48 38 0 1 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
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency likely pathogenic uncertain significance likely benign benign
pathogenic 1 0 0 0
uncertain significance 0 0 14 7
likely benign 0 4 0 11
benign 1 15 36 19

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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 19 4 5 0 0 28
Invitae 0 29 0 1 18 0 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 15 1 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 0 36 0 15 0 0 0 15
PreventionGenetics, PreventionGenetics 0 49 0 12 1 0 0 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 29 0 4 8 0 0 12
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 21 0 11 0 0 0 11
Genetic Services Laboratory, University of Chicago 0 5 0 10 1 0 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 46 0 10 0 0 0 10
GeneDx 0 37 0 7 2 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 67 0 5 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 0 27 0 5 0 0 0 5
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 0 0 1 2 0 1 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 15 0 4 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 7 0 3 1 0 0 4
Department of Pathology and Molecular Medicine,Queen's University 0 12 0 2 1 0 0 3
King Laboratory,University of Washington 0 1 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 1 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 1 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 24 0 0 1 0 0 1
3DMed Clinical Laboratory Inc 0 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Breast Center,Key Laboratory of Carcinogenesis and Translational Research 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 81
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.10253_10256del (p.Ile3418fs) rs80359259
NM_000059.3(BRCA2):c.1909+22dup rs276174816
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.9087G>A (p.Ala3029=) rs368576266
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1077A>G (p.Glu359=) rs1135401832
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=) rs1042077901
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4860T>C (p.Thr1620=) rs750938749
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.5152+15A>G rs750905289
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761
NM_007294.4(BRCA1):c.5332+13G>T rs372391060
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012
NM_007294.4(BRCA1):c.594-2A>C rs80358033
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.81-6T>C rs80358179
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063

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