Submissions for variant NM_001035.3(RYR2):c.7075C>A (p.Arg2359=)

gnomAD frequency: 0.00016  dbSNP: rs200921429

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151766	SCV000200176	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Arg2359Arg in Exon 46 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence. It has been identified in 1/6640 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS;).
GeneDx	RCV001697076	SCV000732733	likely benign	not provided	2019-03-12	criteria provided, single submitter	clinical testing
Invitae	RCV003103736	SCV001001999	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2023-11-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001179305	SCV001343936	likely benign	Cardiomyopathy	2018-11-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362791	SCV002662171	likely benign	Cardiovascular phenotype	2019-05-30	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.
CeGaT Center for Human Genetics Tuebingen	RCV001697076	SCV004009953	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BP7