ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2298C>T (p.Asn766=)

gnomAD frequency: 0.00002  dbSNP: rs144186349
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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 RCV000162742 SCV000213214 likely benign Hereditary cancer-predisposing syndrome 2014-08-14 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 RCV000162742 SCV000253461 likely benign Hereditary cancer-predisposing syndrome 2024-09-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257465 SCV002538476 likely benign Nijmegen breakage syndrome-like disorder 2021-08-09 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003952811 SCV004776261 likely benign RAD50-related disorder 2021-11-10 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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