ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1602A>G (p.Thr534=)

gnomAD frequency: 0.00004  dbSNP: rs150348197
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163905 SCV000214499 likely benign Hereditary cancer-predisposing syndrome 2015-10-15 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 RCV000163905 SCV000559101 likely benign Hereditary cancer-predisposing syndrome 2024-02-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258820 SCV002538456 likely benign Nijmegen breakage syndrome-like disorder 2022-03-05 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002258820 SCV002806521 likely benign Nijmegen breakage syndrome-like disorder 2021-08-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477603 SCV004219285 likely benign not provided 2023-05-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003477603 SCV005222401 likely benign not provided criteria provided, single submitter not provided

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