Submissions for variant NM_001035.3(RYR2):c.1110A>G (p.Leu370=)

gnomAD frequency: 0.00063  dbSNP: rs150705689

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001702366	SCV000514432	likely benign	not provided	2019-08-12	criteria provided, single submitter	clinical testing
Invitae	RCV002521534	SCV000554615	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777807	SCV000913802	benign	Cardiomyopathy	2018-04-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429364	SCV002742855	likely benign	Cardiovascular phenotype	2018-09-29	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.
PreventionGenetics, part of Exact Sciences	RCV003912629	SCV004744376	likely benign	RYR2-related condition	2019-10-28	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702366	SCV001931641	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001702366	SCV001956107	likely benign	not provided		no assertion criteria provided	clinical testing