Submissions for variant NM_001035.3(RYR2):c.11634A>G (p.Leu3878=)

gnomAD frequency: 0.00001  dbSNP: rs587781143

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127850	SCV000171432	benign	not specified	2013-02-06	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	RCV002515915	SCV001003501	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001181121	SCV001346207	likely benign	Cardiomyopathy	2018-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321614	SCV002629274	likely benign	Cardiovascular phenotype	2020-12-08	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	RCV003884354	SCV004700608	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BP7