ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.621G>A (p.Ser207=)

dbSNP: rs749859221
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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 RCV000219817 SCV000275008 likely benign Hereditary cancer-predisposing syndrome 2015-04-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000228708 SCV000287718 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-10-20 criteria provided, single submitter clinical testing
GeneDx RCV001697292 SCV000732259 likely benign not provided 2019-07-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000219817 SCV001359186 likely benign Hereditary cancer-predisposing syndrome 2020-01-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267957 SCV002550918 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000219817 SCV000805307 likely benign Hereditary cancer-predisposing syndrome 2018-05-08 no assertion criteria provided clinical testing

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