Submissions for variant NM_001035.3(RYR2):c.5613C>T (p.Asp1871=)

gnomAD frequency: 0.00265  dbSNP: rs116774472

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000154635	SCV000171418	benign	not specified	2013-07-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154635	SCV000204309	benign	not specified	2014-02-17	criteria provided, single submitter	clinical testing	Asp1871Asp in exon 37 of RYR2: This variant is not expected to have clinical sig nificance because it has been identified in 0.8% (31/4108) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs116774472).
Eurofins Ntd Llc (ga)	RCV000154635	SCV000229856	benign	not specified	2015-03-06	criteria provided, single submitter	clinical testing
Invitae	RCV002514693	SCV000285737	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621203	SCV000736315	benign	Cardiovascular phenotype	2016-08-29	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769787	SCV000901212	benign	Cardiomyopathy	2016-10-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769787	SCV001342771	benign	Cardiomyopathy	2018-11-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529741	SCV004562394	benign	not provided	2023-03-28	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997459	SCV004820078	benign	Catecholaminergic polymorphic ventricular tachycardia	2024-02-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529741	SCV001743713	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154635	SCV001917476	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529741	SCV001967209	likely benign	not provided		no assertion criteria provided	clinical testing