ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.624G>A (p.Val208=)

dbSNP: rs1555281104
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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 RCV000582860 SCV000688971 likely benign Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582860 SCV001187161 likely benign Hereditary cancer-predisposing syndrome 2018-12-05 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 RCV002529221 SCV003221935 likely benign Hereditary breast ovarian cancer syndrome 2022-07-15 criteria provided, single submitter clinical testing

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