ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5061T>G (p.Leu1687=)

dbSNP: rs1566231634
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773968 SCV000907668 likely benign Hereditary cancer-predisposing syndrome 2018-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001427496 SCV001630179 likely benign Hereditary breast ovarian cancer syndrome 2023-08-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000773968 SCV002533920 likely benign Hereditary cancer-predisposing syndrome 2021-10-12 criteria provided, single submitter curation
Ambry Genetics RCV000773968 SCV005097560 likely benign Hereditary cancer-predisposing syndrome 2024-05-31 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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