ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.930C>T (p.Asp310=)

dbSNP: rs2142409178
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001407033 SCV001609000 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2025-01-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584927 SCV004357143 likely benign Hereditary cancer-predisposing syndrome 2023-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003584927 SCV005163393 likely benign Hereditary cancer-predisposing syndrome 2024-05-10 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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