ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)

dbSNP: rs780721021
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502553 SCV000593751 uncertain significance not specified 2015-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000812649 SCV000952969 likely benign Hereditary breast ovarian cancer syndrome 2024-09-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985565 SCV001133863 uncertain significance not provided 2019-08-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000502553 SCV001361754 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367683 SCV002658593 likely benign Hereditary cancer-predisposing syndrome 2022-10-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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