Submissions for variant NM_000540.3(RYR1):c.13464G>A (p.Pro4488=)

gnomAD frequency: 0.00800  dbSNP: rs10405232

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147412	SCV000194803	benign	not specified	2013-03-04	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147412	SCV000203474	benign	not specified	2014-04-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000147412	SCV000304820	benign	not specified	2018-01-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360140	SCV000412963	likely benign	Multiminicore myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406908	SCV000412964	likely benign	Malignant hyperthermia of anesthesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000297295	SCV000412965	likely benign	Neuromuscular disease, congenital, with uniform type 1 fiber	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000354603	SCV000412966	likely benign	Central core myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000538356	SCV000659817	benign	RYR1-related disorder	2025-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000147412	SCV000714562	benign	not specified	2017-04-07	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	RCV003514311	SCV004358210	benign	Malignant hyperthermia, susceptibility to, 1	2022-04-29	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003514311	SCV004816233	benign	Malignant hyperthermia, susceptibility to, 1	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703421	SCV005208294	likely benign	not provided		criteria provided, single submitter	not provided