Submissions for variant NM_001035.3(RYR2):c.12111C>T (p.Pro4037=)

gnomAD frequency: 0.00002  dbSNP: rs770463326

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001183772	SCV001349596	likely benign	Cardiomyopathy	2019-01-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003104013	SCV001600546	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-12-24	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004008409	SCV004819642	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2023-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004033090	SCV005037017	likely benign	Cardiovascular phenotype	2023-02-25	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.
Clinical Genetics, Academic Medical Center	RCV001701299	SCV001921882	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001726444	SCV001963321	likely benign	not provided		no assertion criteria provided	clinical testing