ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.36T>A (p.Leu12=)

dbSNP: rs1256721417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV005428402 SCV006094154 benign Breast-ovarian cancer, familial, susceptibility to, 4 2025-02-19 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.
Ambry Genetics RCV001523980 SCV002621895 likely benign Hereditary cancer-predisposing syndrome 2019-10-06 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.
Color Diagnostics, LLC DBA Color Health RCV001523980 SCV001733726 likely benign Hereditary cancer-predisposing syndrome 2020-08-03 criteria provided, single submitter clinical testing

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