ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.393C>T (p.Asn131=)

gnomAD frequency: 0.00002  dbSNP: rs772605790
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165551 SCV000216283 likely benign Hereditary cancer-predisposing syndrome 2014-08-22 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.
GeneDx RCV000930839 SCV000516655 likely benign not provided 2018-05-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165551 SCV000903560 likely benign Hereditary cancer-predisposing syndrome 2018-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087257 SCV001076497 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000930839 SCV001134801 likely benign not provided 2019-02-18 criteria provided, single submitter clinical testing

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