ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.195C>T (p.Pro65=)

gnomAD frequency: 0.00003  dbSNP: rs376616485
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222448 SCV000274339 likely benign Hereditary cancer-predisposing syndrome 2015-03-05 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.
GeneDx RCV001705211 SCV000514354 likely benign not provided 2019-06-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000222448 SCV000537481 likely benign Hereditary cancer-predisposing syndrome 2016-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000469801 SCV000561557 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2025-01-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000222448 SCV002534779 likely benign Hereditary cancer-predisposing syndrome 2021-02-09 criteria provided, single submitter curation

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