Submissions for variant NM_001035.3(RYR2):c.615C>T (p.Ala205=)

gnomAD frequency: 0.00063  dbSNP: rs112680790

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002526467	SCV000554558	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2025-01-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000593649	SCV000705516	uncertain significance	not provided	2017-01-24	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768753	SCV000900123	likely benign	Cardiomyopathy	2016-01-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000768753	SCV001343052	benign	Cardiomyopathy	2018-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000593649	SCV001898949	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356712	SCV002655756	likely benign	Cardiovascular phenotype	2019-02-11	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330699	SCV004038016	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000593649	SCV004564803	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002012	SCV004845049	benign	Catecholaminergic polymorphic ventricular tachycardia	2024-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539961	SCV004760834	likely benign	RYR2-related disorder	2020-09-24	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).