Submissions for variant NM_000540.3(RYR1):c.9456C>T (p.Phe3152=)

gnomAD frequency: 0.00005  dbSNP: rs369206584

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723874	SCV000203462	uncertain significance	not provided	2014-04-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000153869	SCV000528590	likely benign	not specified	2016-06-28	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	RCV001082211	SCV000660091	likely benign	RYR1-related disorder	2025-01-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723874	SCV004033664	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	RYR1: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV003998236	SCV004823513	likely benign	Malignant hyperthermia, susceptibility to, 1	2023-12-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV001082211	SCV004760629	likely benign	RYR1-related disorder	2022-12-01	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).