Submissions for variant NM_005732.4(RAD50):c.3122A>G (p.His1041Arg)

gnomAD frequency: 0.00064  dbSNP: rs149577978

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000130489	SCV000185358	likely benign	Hereditary cancer-predisposing syndrome	2022-08-16	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	RCV000130489	SCV000289049	likely benign	Hereditary cancer-predisposing syndrome	2024-01-08	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477545	SCV004220097	likely benign	not provided	2022-09-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952683	SCV004774697	likely benign	RAD50-related condition	2022-02-11	criteria provided, single submitter	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).