ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) (rs28897677)

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Total submissions: 20
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000120286 SCV000602714 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162601 SCV000213022 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034727 SCV000043181 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111630 SCV000144110 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000120286 SCV000219208 likely benign not specified 2016-10-26 criteria provided, single submitter clinical testing
Color RCV000162601 SCV000682965 likely benign Hereditary cancer-predisposing syndrome 2015-02-11 criteria provided, single submitter clinical testing
Counsyl RCV000111630 SCV000220299 likely benign Breast-ovarian cancer, familial 1 2014-05-08 criteria provided, single submitter literature only
Department of Medical Genetics,University Hospital of North Norway RCV000111630 SCV000301431 likely benign Breast-ovarian cancer, familial 1 2016-05-01 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120286 SCV000591336 benign not specified 2014-08-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000111630 SCV000733657 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111630 SCV000244304 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 = 0.00000188
GeneDx RCV000120286 SCV000167242 benign not specified 2013-12-12 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.
Genetic Services Laboratory, University of Chicago RCV000120286 SCV000593685 likely benign not specified 2017-03-29 criteria provided, single submitter clinical testing
ITMI RCV000120286 SCV000084438 not provided not specified 2013-09-19 no assertion provided reference population
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000162601 SCV000679700 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000047494 SCV000494349 benign Hereditary breast and ovarian cancer syndrome 2014-09-29 criteria provided, single submitter clinical testing
Invitae RCV000047494 SCV000075507 benign Hereditary breast and ovarian cancer syndrome 2018-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120286 SCV000538438 likely benign 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: 0.1% (51/66708) European; ClinVar: 5 B/LB, 3 VUS
Pathway Genomics RCV000111630 SCV000223749 benign Breast-ovarian cancer, familial 1 2014-10-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000034727 SCV000806898 likely benign not provided 2017-07-07 criteria provided, single submitter clinical testing

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