Submissions for variant NM_001035.3(RYR2):c.1005+13A>G

gnomAD frequency: 0.00021  dbSNP: rs552027921

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156573	SCV000206292	likely benign	not specified	2014-06-27	criteria provided, single submitter	clinical testing	1005+13A>G in intron 12 of RYR2: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence.
GeneDx	RCV000156573	SCV000518058	benign	not specified	2015-09-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002515027	SCV002134242	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2025-02-02	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529023	SCV001741767	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000156573	SCV001921586	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529023	SCV001927137	likely benign	not provided		no assertion criteria provided	clinical testing