Submissions for variant NM_001035.3(RYR2):c.7343-9C>T

dbSNP: rs372778902

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127842	SCV000171424	benign	not specified	2013-06-08	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	RCV002512526	SCV000285745	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2023-12-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001177070	SCV001341198	benign	Cardiomyopathy	2018-11-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498630	SCV002807683	likely benign	Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	2021-10-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965066	SCV004782356	likely benign	RYR2-related condition	2023-06-01	criteria provided, single submitter	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).