ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.519T>C (p.Ala173=)

dbSNP: rs1177998422
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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 RCV000563370 SCV000667127 likely benign Hereditary cancer-predisposing syndrome 2016-10-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000940818 SCV001086686 likely benign Fanconi anemia complementation group O 2024-01-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000563370 SCV002051837 likely benign Hereditary cancer-predisposing syndrome 2018-12-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478240 SCV004220145 likely benign not provided 2022-09-13 criteria provided, single submitter clinical testing

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