Submissions for variant NM_001035.3(RYR2):c.1665C>T (p.Leu555=)

gnomAD frequency: 0.00003  dbSNP: rs371262363

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000439386	SCV000528542	likely benign	not specified	2016-06-06	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.
Ambry Genetics	RCV000619995	SCV000737714	likely benign	Cardiovascular phenotype	2016-11-21	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	RCV001191857	SCV001359773	likely benign	Cardiomyopathy	2019-06-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002519784	SCV001642738	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-09-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003326380	SCV004033013	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV003998851	SCV004846240	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2023-12-13	criteria provided, single submitter	clinical testing