ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.382C>T (p.Leu128=)

gnomAD frequency: 0.00001  dbSNP: rs1438461174
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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 RCV000533940 SCV000651742 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-08-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584572 SCV000691334 likely benign Hereditary cancer-predisposing syndrome 2017-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584572 SCV001182835 likely benign Hereditary cancer-predisposing syndrome 2019-03-07 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403323 SCV004121976 likely benign not specified 2023-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751598 SCV005357388 likely benign RAD51D-related disorder 2024-05-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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