ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.546T>G (p.Leu182=)

gnomAD frequency: 0.00004  dbSNP: rs1476282276
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563184 SCV000663778 likely benign Hereditary cancer-predisposing syndrome 2016-04-21 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 RCV000648272 SCV000770086 likely benign Fanconi anemia complementation group O 2024-05-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000563184 SCV001358175 likely benign Hereditary cancer-predisposing syndrome 2019-01-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506381 SCV002809143 likely benign Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 2022-01-12 criteria provided, single submitter clinical testing

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