Submissions for variant NM_001035.3(RYR2):c.1077A>G (p.Ser359=)

gnomAD frequency: 0.00001  dbSNP: rs727505317

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156858	SCV000206579	likely benign	not specified	2014-11-13	criteria provided, single submitter	clinical testing	p.Ser359Ser in exon 13 of RYR2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Color Diagnostics, LLC DBA Color Health	RCV001190186	SCV001357623	likely benign	Cardiomyopathy	2018-03-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002516350	SCV001729351	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-05-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003221827	SCV003916569	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV003998326	SCV004846647	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2023-12-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004739484	SCV005364024	likely benign	RYR2-related disorder	2024-07-11	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).