ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.757C>A (p.Arg253=)

dbSNP: rs137886232
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163570 SCV000214129 likely benign Hereditary cancer-predisposing syndrome 2014-10-31 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.
Counsyl RCV000411805 SCV000489491 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2016-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001721049 SCV000526529 likely benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411805 SCV000651776 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2025-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163570 SCV000908952 likely benign Hereditary cancer-predisposing syndrome 2018-10-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163570 SCV002534852 likely benign Hereditary cancer-predisposing syndrome 2022-01-04 criteria provided, single submitter curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150003 SCV003838192 likely benign Breast and/or ovarian cancer 2021-12-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000411805 SCV004017768 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.

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