ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.126A>G (p.Lys42=)

gnomAD frequency: 0.00001  dbSNP: rs145361433
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528680 SCV000651713 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574032 SCV000671958 likely benign Hereditary cancer-predisposing syndrome 2017-04-20 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.
Color Diagnostics, LLC DBA Color Health RCV000574032 SCV000691303 likely benign Hereditary cancer-predisposing syndrome 2016-01-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264518 SCV001442712 likely benign not specified 2020-10-22 criteria provided, single submitter clinical testing

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