Submissions for variant NM_001035.3(RYR2):c.9867G>A (p.Gly3289=)

gnomAD frequency: 0.00281  dbSNP: rs190537182

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036808	SCV000060463	benign	not specified	2012-02-09	criteria provided, single submitter	clinical testing	A=32/G=3030 (1% AA chr; NHLBI/ESP)
GeneDx	RCV000036808	SCV000171427	benign	not specified	2012-05-08	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.
Invitae	RCV002513446	SCV000285755	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000231362	SCV000356393	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000349085	SCV000356394	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768784	SCV000900154	benign	Cardiomyopathy	2017-10-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000768784	SCV001357596	benign	Cardiomyopathy	2018-11-27	criteria provided, single submitter	clinical testing