Submissions for variant NM_000540.3(RYR1):c.9771C>T (p.Ala3257=)

gnomAD frequency: 0.00545  dbSNP: rs75991872

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246776	SCV000305082	benign	not specified	2016-08-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284169	SCV000412684	likely benign	Central core myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000339185	SCV000412685	likely benign	Neuromuscular disease, congenital, with uniform type 1 fiber	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375049	SCV000412686	likely benign	Malignant hyperthermia of anesthesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280576	SCV000412687	likely benign	Multiminicore myopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000246776	SCV000525210	benign	not specified	2016-10-31	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	RCV000544758	SCV000660098	benign	RYR1-related disorder	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703520	SCV005207174	likely benign	not provided		criteria provided, single submitter	not provided
Color Diagnostics, LLC DBA Color Health	RCV005402895	SCV006064094	benign	Malignant hyperthermia, susceptibility to, 1	2022-10-03	criteria provided, single submitter	clinical testing