ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.366G>A (p.Lys122=)

dbSNP: rs587782384
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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 RCV000164786 SCV000215464 likely benign Hereditary cancer-predisposing syndrome 2014-06-18 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 RCV000164786 SCV001489123 likely benign Hereditary cancer-predisposing syndrome 2023-10-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751307 SCV005350750 likely benign RAD50-related disorder 2019-06-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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