ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) (rs34355306)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656586 SCV000602880 benign not provided 2017-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162729 SCV000213195 benign Hereditary cancer-predisposing syndrome 2015-11-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000458106 SCV000541051 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112901 SCV000145844 benign Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing
Color RCV000162729 SCV000683412 benign Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing
Counsyl RCV000112901 SCV000154037 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000173633 SCV000591734 benign not specified 2016-10-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173633 SCV000224763 benign not specified 2014-12-11 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112901 SCV000245003 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01016 (African), derived from 1000 genomes (2012-04-30).
GeneDx RCV000173633 SCV000167330 benign not specified 2013-10-29 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 RCV000173633 SCV000593740 benign not specified 2017-06-20 criteria provided, single submitter clinical testing
Invitae RCV000167779 SCV000071784 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656586 SCV000778643 likely benign not provided 2017-10-09 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112901 SCV000195958 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000173633 SCV000805651 benign not specified 2017-07-11 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162729 SCV000787918 likely benign Hereditary cancer-predisposing syndrome 2017-09-29 no assertion criteria provided clinical testing

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