ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) (rs28897683)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162503 SCV000212892 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111873 SCV000144452 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148407 SCV000190106 uncertain significance Neoplasm of the breast 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Color RCV000162503 SCV000683039 likely benign Hereditary cancer-predisposing syndrome 2015-02-11 criteria provided, single submitter clinical testing
Counsyl RCV000111873 SCV000220408 likely benign Breast-ovarian cancer, familial 1 2014-06-12 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000173848 SCV000591390 benign not specified 2012-11-19 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000173848 SCV000588040 benign not specified 2017-04-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173848 SCV000225009 benign not specified 2014-08-07 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111873 SCV000244320 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000000203
GeneDx RCV000173848 SCV000108657 benign not specified 2017-07-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000111873 SCV000746300 uncertain significance Breast-ovarian cancer, familial 1 2017-12-03 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000047852 SCV000267855 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
Invitae RCV000047852 SCV000075865 benign Hereditary breast and ovarian cancer syndrome 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000173848 SCV000538444 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 22/66720 European; ClinVar: 5 B/LB, 2 VUS
PreventionGenetics RCV000679688 SCV000806919 likely benign not provided 2016-10-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000173848 SCV000600289 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000173848 SCV000587223 benign not specified 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000111873 SCV000053648 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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