ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.346-4C>G

gnomAD frequency: 0.00002  dbSNP: rs767328693
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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 RCV000584502 SCV000691331 likely benign Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000649725 SCV000771557 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584502 SCV001181835 likely benign Hereditary cancer-predisposing syndrome 2020-06-15 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.
Sema4, Sema4 RCV000584502 SCV002534803 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-10 criteria provided, single submitter curation

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