Submissions for variant NM_005732.4(RAD50):c.1677C>T (p.His559=)

gnomAD frequency: 0.00022  dbSNP: rs142619269

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000165613	SCV000216347	likely benign	Hereditary cancer-predisposing syndrome	2014-09-04	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	RCV000165613	SCV000253457	likely benign	Hereditary cancer-predisposing syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001264505	SCV001442691	likely benign	not specified	2020-10-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257469	SCV002538458	likely benign	Nijmegen breakage syndrome-like disorder	2022-01-22	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002257469	SCV002803420	likely benign	Nijmegen breakage syndrome-like disorder	2021-11-10	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477618	SCV004219288	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947426	SCV004764147	likely benign	RAD50-related disorder	2019-11-05	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).