ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.262C>T (p.Leu88=)

dbSNP: rs786201383
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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 RCV000163517 SCV000214075 likely benign Hereditary cancer-predisposing syndrome 2015-02-28 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.
Invitae RCV000989960 SCV000560780 likely benign Fanconi anemia complementation group O 2023-12-30 criteria provided, single submitter clinical testing
Mendelics RCV000989960 SCV001140713 likely benign Fanconi anemia complementation group O 2019-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163517 SCV002052337 likely benign Hereditary cancer-predisposing syndrome 2021-04-20 criteria provided, single submitter clinical testing

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