ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.966A>G (p.Thr322=)

gnomAD frequency: 0.00002  dbSNP: rs786203299
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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 RCV000166546 SCV000217348 likely benign Hereditary cancer-predisposing syndrome 2014-11-03 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 RCV001704220 SCV000514360 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000460582 SCV000561567 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2025-01-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166546 SCV000686507 likely benign Hereditary cancer-predisposing syndrome 2016-08-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000417545 SCV000698119 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing

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