Submissions for variant NM_000540.3(RYR1):c.8949T>C (p.Ser2983=)

gnomAD frequency: 0.00415  dbSNP: rs116537677

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079183	SCV000111052	benign	not specified	2013-07-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079183	SCV000305065	benign	not specified	2018-04-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000348452	SCV000412608	likely benign	Central core myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405734	SCV000412609	likely benign	Neuromuscular disease, congenital, with uniform type 1 fiber	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000313484	SCV000412610	likely benign	Malignant hyperthermia of anesthesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370460	SCV000412611	likely benign	Multiminicore myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000544088	SCV000660075	benign	RYR1-related disorder	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000079183	SCV000726243	benign	not specified	2018-01-26	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004703213	SCV005207173	likely benign	not provided		criteria provided, single submitter	not provided