ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.948T>C (p.His316=)

gnomAD frequency: 0.00002  dbSNP: rs773196250
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217120 SCV000274741 likely benign Hereditary cancer-predisposing syndrome 2015-03-28 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.
GeneDx RCV000433760 SCV000514350 benign not specified 2015-08-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000217120 SCV000686407 likely benign Hereditary cancer-predisposing syndrome 2017-01-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433760 SCV000920366 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Invitae RCV000951711 SCV001098138 likely benign Fanconi anemia complementation group O 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000217120 SCV002530036 likely benign Hereditary cancer-predisposing syndrome 2021-08-04 criteria provided, single submitter curation

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