Submissions for variant NM_000540.3(RYR1):c.11260-19T>G

gnomAD frequency: 0.02140  dbSNP: rs4802583

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153871	SCV000203468	benign	not specified	2014-04-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153871	SCV000304776	benign	not specified	2018-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000153871	SCV000519903	benign	not specified	2016-02-17	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	RCV002056043	SCV002399584	benign	RYR1-related disorder	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001795276	SCV005310875	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795276	SCV002035440	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000153871	SCV002037349	benign	not specified		no assertion criteria provided	clinical testing