Submissions for variant NM_005732.4(RAD50):c.980G>A (p.Arg327His)

gnomAD frequency: 0.00207  dbSNP: rs28903091

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000115966	SCV000053551	benign	Hereditary cancer-predisposing syndrome	2014-07-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV000656959	SCV000149875	benign	not provided	2019-05-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29928469, 16385572, 27153395, 20805886, 31159747)
Genetic Services Laboratory, University of Chicago	RCV000193234	SCV000248652	likely benign	not specified	2022-01-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000115966	SCV000252806	benign	Hereditary cancer-predisposing syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000409977	SCV000488748	uncertain significance	Nijmegen breakage syndrome-like disorder	2016-07-05	criteria provided, single submitter	clinical testing
GeneKor MSA	RCV000115966	SCV000821804	likely benign	Hereditary cancer-predisposing syndrome	2018-08-01	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000115966	SCV001251949	benign	Hereditary cancer-predisposing syndrome	2020-05-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000656959	SCV001961903	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RAD50: BP4, BS2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000656959	SCV002009639	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000409977	SCV002538540	likely benign	Nijmegen breakage syndrome-like disorder	2021-07-28	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000193234	SCV002773948	benign	not specified	2021-06-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003924871	SCV004743725	benign	RAD50-related disorder	2020-02-21	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).