Submissions for variant NM_001035.3(RYR2):c.8028G>A (p.Leu2676=)

gnomAD frequency: 0.00001  dbSNP: rs775159757

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000252740	SCV000319037	likely benign	Cardiovascular phenotype	2019-12-30	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.
GeneDx	RCV000427842	SCV000524805	likely benign	not specified	2016-02-26	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	RCV002518996	SCV001004555	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-09-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001185058	SCV001351197	likely benign	Cardiomyopathy	2018-12-13	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003999035	SCV004822773	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2023-12-13	criteria provided, single submitter	clinical testing