ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.354C>T (p.Leu118=)

dbSNP: rs2142433941
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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 RCV001503811 SCV001708671 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334554 SCV002618727 likely benign Hereditary cancer-predisposing syndrome 2022-03-07 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.
Color Diagnostics, LLC DBA Color Health RCV002334554 SCV004357168 likely benign Hereditary cancer-predisposing syndrome 2023-03-15 criteria provided, single submitter clinical testing

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