Submissions for variant NM_001035.3(RYR2):c.1335C>T (p.Val445=)

gnomAD frequency: 0.00001  dbSNP: rs573201028

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002548244	SCV001097384	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001177998	SCV001342316	likely benign	Cardiomyopathy	2019-06-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002382178	SCV002694484	likely benign	Cardiovascular phenotype	2021-11-03	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.
All of Us Research Program, National Institutes of Health	RCV004004347	SCV004844444	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2023-12-13	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699473	SCV001917260	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001699473	SCV001962747	likely benign	not provided		no assertion criteria provided	clinical testing