ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.654G>A (p.Glu218=)

gnomAD frequency: 0.00001  dbSNP: rs1388636466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648284 SCV000770098 likely benign Fanconi anemia complementation group O 2023-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025397 SCV001187578 likely benign Hereditary cancer-predisposing syndrome 2019-10-29 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.
Sema4, Sema4 RCV001025397 SCV002530001 likely benign Hereditary cancer-predisposing syndrome 2021-05-14 criteria provided, single submitter curation

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