ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.531G>A (p.Gln177=)

dbSNP: rs1555568143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581045 SCV000686466 likely benign Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581045 SCV002647262 likely benign Hereditary cancer-predisposing syndrome 2020-03-12 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 RCV002529114 SCV003204220 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2022-06-09 criteria provided, single submitter clinical testing

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