ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3228A>G (p.Val1076=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002445523 SCV002611379 likely benign Hereditary cancer-predisposing syndrome 2021-11-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005058283 SCV005703632 likely benign Hereditary breast ovarian cancer syndrome 2024-09-10 criteria provided, single submitter clinical testing

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