ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.771C>T (p.Ser257=)

gnomAD frequency: 0.00206  dbSNP: rs146212490
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212969 SCV000171277 benign not specified 2014-01-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000127698 SCV000213854 likely benign Hereditary cancer-predisposing syndrome 2014-06-19 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 RCV000226620 SCV000287723 benign Breast-ovarian cancer, familial, susceptibility to, 4 2025-01-30 criteria provided, single submitter clinical testing
Counsyl RCV000226620 SCV000488519 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2016-06-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000127698 SCV000686486 benign Hereditary cancer-predisposing syndrome 2015-09-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000212969 SCV000859948 benign not specified 2018-03-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759339 SCV000888610 benign not provided 2017-08-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212969 SCV002071911 benign not specified 2020-04-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000127698 SCV002534854 likely benign Hereditary cancer-predisposing syndrome 2021-02-24 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000226620 SCV004017727 benign Breast-ovarian cancer, familial, susceptibility to, 4 2023-04-06 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV001729403 SCV001977035 likely benign Hereditary breast ovarian cancer syndrome 2021-09-27 no assertion criteria provided clinical testing

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