ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.288C>A (p.Thr96=)

dbSNP: rs143180709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570532 SCV000671886 likely benign Hereditary cancer-predisposing syndrome 2016-03-04 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 RCV000570532 SCV001353810 likely benign Hereditary cancer-predisposing syndrome 2019-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001454388 SCV001658112 likely benign Fanconi anemia complementation group O 2023-07-16 criteria provided, single submitter clinical testing

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