Submissions for variant NM_001035.3(RYR2):c.2204-16G>T

gnomAD frequency: 0.00235  dbSNP: rs368648602

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000182620	SCV000234986	benign	not specified	2014-06-19	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000182620	SCV001159980	benign	not specified	2019-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV002516859	SCV002475545	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000182620	SCV003934701	benign	not specified	2023-05-06	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000182620	SCV001978046	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001729435	SCV001978583	likely benign	not provided		no assertion criteria provided	clinical testing