Submissions for variant NM_001035.3(RYR2):c.8742G>A (p.Thr2914=)

gnomAD frequency: 0.00002  dbSNP: rs751520306

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001189750	SCV001357108	likely benign	Cardiomyopathy	2018-11-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372713	SCV002687761	likely benign	Cardiovascular phenotype	2022-02-20	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.
Fulgent Genetics, Fulgent Genetics	RCV002505509	SCV002813185	likely benign	Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	2021-08-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002549862	SCV003257558	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-12-25	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004004426	SCV004815686	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2023-06-26	criteria provided, single submitter	clinical testing