Submissions for variant NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)

gnomAD frequency: 0.00126  dbSNP: rs142558977

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000721683	SCV000230813	uncertain significance	not provided	2014-12-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000245786	SCV000305030	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000335516	SCV000412519	likely benign	Congenital multicore myopathy with external ophthalmoplegia	2018-05-03	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	RCV000408287	SCV000412520	likely benign	Neuromuscular disease, congenital, with uniform type 1 fiber	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000282044	SCV000412521	likely benign	Malignant hyperthermia, susceptibility to, 1	2018-05-03	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000337138	SCV000412522	likely benign	Central core myopathy	2018-05-03	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	RCV000721683	SCV000524478	likely benign	not provided	2020-08-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20681998)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085362	SCV000660050	benign	RYR1-related disorder	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000721683	SCV001151868	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	RYR1: BP4, BP7
Athena Diagnostics	RCV000245786	SCV001880065	benign	not specified	2021-02-26	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000282044	SCV004358144	benign	Malignant hyperthermia, susceptibility to, 1	2022-09-20	criteria provided, single submitter	clinical testing