ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3507C>T (p.Ala1169=)

gnomAD frequency: 0.00003  dbSNP: rs144557787
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130356 SCV000185207 benign Hereditary cancer-predisposing syndrome 2015-03-02 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000130356 SCV000559071 likely benign Hereditary cancer-predisposing syndrome 2024-07-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001280641 SCV001467877 likely benign not specified 2020-12-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477544 SCV004220108 likely benign not provided 2023-05-07 criteria provided, single submitter clinical testing

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