ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.849A>C (p.Gly283=)

dbSNP: rs766847072
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000649728 SCV000771560 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2025-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000774914 SCV000908947 likely benign Hereditary cancer-predisposing syndrome 2018-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774914 SCV001179077 likely benign Hereditary cancer-predisposing syndrome 2015-10-30 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 RCV001558019 SCV001779885 likely benign not provided 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001558019 SCV004220187 likely benign not provided 2023-02-24 criteria provided, single submitter clinical testing

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