Submissions for variant NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)

gnomAD frequency: 0.00628  dbSNP: rs146072491

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000147414	SCV000225115	likely benign	not specified	2014-11-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000147414	SCV000304850	benign	not specified	2018-01-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298868	SCV000413028	likely benign	Central core myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355981	SCV000413029	likely benign	Neuromuscular disease, congenital, with uniform type 1 fiber	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263490	SCV000413030	likely benign	Malignant hyperthermia, susceptibility to, 1	2018-02-22	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000330379	SCV000413031	likely benign	Congenital multicore myopathy with external ophthalmoplegia	2018-02-22	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000147414	SCV000528803	benign	not specified	2016-08-17	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.
Athena Diagnostics	RCV000147414	SCV000614902	benign	not specified	2016-09-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081860	SCV000659855	benign	RYR1-related disorder	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000551499	SCV001151909	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RYR1: BP4, BS2
Fulgent Genetics, Fulgent Genetics	RCV002498670	SCV002806440	benign	Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome	2021-07-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000263490	SCV004358230	benign	Malignant hyperthermia, susceptibility to, 1	2022-04-29	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000263490	SCV004816270	benign	Malignant hyperthermia, susceptibility to, 1	2024-02-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000147414	SCV000194809	likely benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000551499	SCV001800011	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000147414	SCV001958381	benign	not specified		no assertion criteria provided	clinical testing