Submissions for variant NM_001035.3(RYR2):c.11208G>A (p.Ala3736=)

gnomAD frequency: 0.00002  dbSNP: rs750384592

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002522768	SCV000541657	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-10-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001178584	SCV001343060	likely benign	Cardiomyopathy	2018-12-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436381	SCV002750964	likely benign	Cardiovascular phenotype	2019-04-15	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	RCV001178584	SCV003838723	likely benign	Cardiomyopathy	2021-06-18	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000611	SCV004823930	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2023-12-13	criteria provided, single submitter	clinical testing