Submissions for variant NM_001035.3(RYR2):c.12720G>C (p.Thr4240=)

gnomAD frequency: 0.00001  dbSNP: rs774851947

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703744	SCV000522997	likely benign	not provided	2021-04-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002521628	SCV001633625	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2023-12-22	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798805	SCV002042892	likely benign	Cardiomyopathy	2021-05-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446686	SCV002682896	likely benign	Cardiovascular phenotype	2021-03-23	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.
Color Diagnostics, LLC DBA Color Health	RCV001798805	SCV004361523	likely benign	Cardiomyopathy	2020-03-26	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000385	SCV004818628	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2023-09-17	criteria provided, single submitter	clinical testing