ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.384G>A (p.Leu128=)

gnomAD frequency: 0.00001  dbSNP: rs1393403501
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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 RCV000582205 SCV000691335 likely benign Hereditary cancer-predisposing syndrome 2017-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001423721 SCV001626303 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582205 SCV002625865 likely benign Hereditary cancer-predisposing syndrome 2016-10-06 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.

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