Submissions for variant NM_001035.3(RYR2):c.13476+8_13476+11dup

dbSNP: rs864309562

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203178	SCV000257748	uncertain significance	Catecholaminergic polymorphic ventricular tachycardia 1	2014-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000479093	SCV000568956	likely benign	not specified	2015-12-03	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.
Color Diagnostics, LLC DBA Color Health	RCV001189183	SCV001356418	likely benign	Cardiomyopathy	2019-04-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000203178	SCV001685598	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2025-01-26	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001509130	SCV001715673	uncertain significance	not provided	2019-05-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535510	SCV004713949	likely benign	RYR2-related disorder	2023-10-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).