Submissions for variant NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)

gnomAD frequency: 0.00586  dbSNP: rs76537615

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000239106	SCV000296942	uncertain significance	Malignant hypothermia	2015-09-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000147430	SCV000304950	benign	not specified	2016-08-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000282746	SCV000412209	likely benign	Multiminicore myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000342522	SCV000412210	likely benign	Malignant hyperthermia of anesthesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000394130	SCV000412211	likely benign	Neuromuscular disease, congenital, with uniform type 1 fiber	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298179	SCV000412212	likely benign	Central core myopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000147430	SCV000525209	likely benign	not specified	2018-02-16	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.
Invitae	RCV000553661	SCV000659947	benign	RYR1-related disorder	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288364	SCV001475426	likely benign	not provided	2019-11-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000147430	SCV000194837	likely benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001288364	SCV002036131	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001288364	SCV002037487	likely benign	not provided		no assertion criteria provided	clinical testing