ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1992A>G (p.Ala664=)

gnomAD frequency: 0.00002  dbSNP: rs773126534
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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 RCV000162784 SCV000213262 likely benign Hereditary cancer-predisposing syndrome 2014-11-10 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 RCV000162784 SCV000261700 likely benign Hereditary cancer-predisposing syndrome 2023-12-12 criteria provided, single submitter clinical testing
Mendelics RCV000987599 SCV001136976 likely benign Nijmegen breakage syndrome-like disorder 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000987599 SCV002538464 likely benign Nijmegen breakage syndrome-like disorder 2020-11-19 criteria provided, single submitter curation

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