ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.489T>C (p.Ser163=)

dbSNP: rs876659719
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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 RCV000772984 SCV000906366 likely benign Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001477436 SCV001681679 likely benign Fanconi anemia complementation group O 2024-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772984 SCV002634808 likely benign Hereditary cancer-predisposing syndrome 2020-12-30 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.
CeGaT Center for Human Genetics Tuebingen RCV003456427 SCV004184695 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing RAD51C: PM2:Supporting, BP4, BP7

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