Submissions for variant NM_000540.3(RYR1):c.4074G>A (p.Gly1358=)

gnomAD frequency: 0.00049  dbSNP: rs372178862

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000343071	SCV000412101	likely benign	Central core myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376680	SCV000412102	likely benign	Malignant hyperthermia of anesthesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284547	SCV000412103	likely benign	Neuromuscular disease, congenital, with uniform type 1 fiber	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000337726	SCV000412104	likely benign	Multiminicore myopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000433314	SCV000527817	likely benign	not specified	2017-08-23	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.
PreventionGenetics, part of Exact Sciences	RCV000721519	SCV000852599	likely benign	not provided	2016-09-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086423	SCV001002661	likely benign	RYR1-related disorder	2024-01-02	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995865	SCV004815124	likely benign	Malignant hyperthermia, susceptibility to, 1	2024-02-05	criteria provided, single submitter	clinical testing