ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1692C>G (p.Thr564=)

dbSNP: rs876660850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213714 SCV000278610 likely benign Hereditary cancer-predisposing syndrome 2015-09-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000213714 SCV000753445 likely benign Hereditary cancer-predisposing syndrome 2023-06-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257525 SCV002538459 likely benign Nijmegen breakage syndrome-like disorder 2021-10-27 criteria provided, single submitter curation

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