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 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
5 36 20 68 70 1 5 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
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 1 1 2 0 0 1
uncertain significance 1 0 0 20 10 0
likely benign 0 0 13 0 10 0
benign 1 1 37 57 19 0

Submitter to submitter summary #

Total submitters: 50
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
Illumina Clinical Services Laboratory,Illumina 0 16 0 41 2 0 0 43
Color 0 84 0 20 21 0 0 41
Biesecker Lab/Human Development Section,National Institutes of Health 0 2 19 4 5 0 0 28
Ambry Genetics 0 90 0 12 14 0 0 26
Counsyl 0 70 0 22 4 0 0 26
Invitae 0 88 0 10 15 0 0 25
Breast Cancer Information Core (BIC) (BRCA1) 0 19 0 0 19 0 2 21
Breast Cancer Information Core (BIC) (BRCA2) 0 45 0 0 20 0 1 21
GeneDx 0 62 0 9 11 0 0 20
True Health Diagnostics 0 13 0 18 1 0 0 19
PreventionGenetics 0 53 0 12 3 0 0 15
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 37 0 15 0 0 0 15
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 84 0 9 6 0 0 15
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 4 0 15 0 0 0 15
Genetic Services Laboratory, University of Chicago 0 4 0 12 1 0 0 13
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 24 0 10 2 0 0 12
Pathway Genomics 0 12 0 11 0 0 1 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 25 0 3 8 0 0 11
Integrated Genetics/Laboratory Corporation of America 0 80 0 6 5 0 0 11
Fulgent Genetics 0 13 0 11 0 0 0 11
Sharing Clinical Reports Project (SCRP) 0 71 0 2 8 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 50 0 10 0 0 0 10
CSER_CC_NCGL; University of Washington Medical Center 0 2 0 5 4 0 0 9
Department of Pathology and Laboratory Medicine,Sinai Health System 0 72 0 4 5 0 0 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 7 0 6 2 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 8 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 61 0 7 0 0 0 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 29 0 1 6 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 47 0 6 0 0 0 6
OMIM 0 2 0 0 3 1 0 4
Michigan Medical Genetics Laboratories,University of Michigan 0 60 0 3 1 0 0 4
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 9 0 1 2 0 1 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 7 0 3 1 0 0 4
Vantari Genetics 0 8 0 3 1 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 57 0 4 0 0 0 4
Mendelics 0 3 0 2 1 0 0 3
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 0 0 0 3 0 0 3
Department of Pathology and Molecular Medicine,Queen's University 0 12 0 2 1 0 0 3
GeneReviews 0 0 1 0 0 0 1 2
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 2 0 0 2
Department of Medical Genetics,University Hospital of North Norway 0 2 0 2 0 0 0 2
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 24 0 0 1 0 1 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 56 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 47 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 9 0 0 1 0 0 1
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 0 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 1 0 0 1
3DMed Clinical Laboratory Inc 0 1 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
University of Washington Department of Laboratory Medicine,University of Washington 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 98
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.10253_10256delTCTA (p.Ile3418Lysfs) rs80359259
NM_000059.3(BRCA2):c.1056C>T (p.Tyr352=) rs786201858
NM_000059.3(BRCA2):c.1077A>G (p.Glu359=) rs1135401832
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1362A>G (p.Lys454=) rs55919657
NM_000059.3(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.3(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1909+22delT rs276174816
NM_000059.3(BRCA2):c.1909+22dupT rs276174816
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3786A>T (p.Ser1262=) rs1042077901
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226
NM_000059.3(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.3(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9087G>A (p.Ala3029=) rs368576266
NM_000059.3(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_007294.3(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.1392C>T (p.Thr464=) rs533802049
NM_007294.3(BRCA1):c.154C>T (p.Leu52Phe) rs80357084
NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2082C>T (p.Ser694=) rs1799949
NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) rs1060915
NM_007294.3(BRCA1):c.4484+14A>G rs80358022
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4860T>C (p.Thr1620=) rs750938749
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.5152+15A>G rs750905289
NM_007294.3(BRCA1):c.5310G>A (p.Gly1770=) rs273901761
NM_007294.3(BRCA1):c.5332+13G>T rs372391060
NM_007294.3(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007294.3(BRCA1):c.795T>C (p.Ser265=) rs201441987
NM_007294.3(BRCA1):c.81-14C>T rs80358006
NM_007294.3(BRCA1):c.81-6T>C rs80358179
NM_007294.3(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.3(BRCA1):c.886A>G (p.Arg296Gly) rs748675395
NM_007294.3(BRCA1):c.889A>C (p.Met297Leu) rs80357196
NM_007294.3(BRCA1):c.981A>G (p.Thr327=) rs1800063

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