Submissions for variant NM_001035.3(RYR2):c.3720C>T (p.Ala1240=)

gnomAD frequency: 0.00024  dbSNP: rs750335699

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000182626	SCV000234994	benign	not specified	2014-09-15	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002517782	SCV000285723	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-12-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000245095	SCV000318672	likely benign	Cardiovascular phenotype	2020-06-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768760	SCV000900130	likely benign	Cardiomyopathy	2017-06-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000768760	SCV001345861	benign	Cardiomyopathy	2018-12-10	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996729	SCV004817065	benign	Catecholaminergic polymorphic ventricular tachycardia	2023-11-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000182626	SCV005725528	benign	not specified	2024-11-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539705	SCV004791350	likely benign	RYR2-related disorder	2019-04-25	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).