ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4509A>G (p.Leu1503=)

dbSNP: rs2072506069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524872 SCV001734840 likely benign Hereditary cancer-predisposing syndrome 2020-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070312 SCV002494874 likely benign Hereditary breast ovarian cancer syndrome 2024-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001524872 SCV005548560 likely benign Hereditary cancer-predisposing syndrome 2024-06-27 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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