Submissions for variant NM_000540.3(RYR1):c.1123-11C>T

gnomAD frequency: 0.00019  dbSNP: rs3745845

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000119430	SCV000194786	uncertain significance	not provided	2013-03-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000243592	SCV000304772	benign	not specified	2016-01-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295802	SCV000411874	likely benign	Central core myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334467	SCV000411875	likely benign	Malignant hyperthermia, susceptibility to, 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000398335	SCV000411876	likely benign	Neuromuscular disease, congenital, with uniform type 1 fiber	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280393	SCV000411877	likely benign	Congenital multicore myopathy with external ophthalmoplegia	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000119430	SCV000724969	likely benign	not provided	2020-09-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16917943)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055317	SCV002406388	benign	RYR1-related disorder	2024-01-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000334467	SCV004357274	benign	Malignant hyperthermia, susceptibility to, 1	2022-10-03	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000334467	SCV004823374	benign	Malignant hyperthermia, susceptibility to, 1	2024-02-05	criteria provided, single submitter	clinical testing
Leiden Muscular Dystrophy (RYR1)	RCV000119430	SCV000154337	not provided	not provided		no assertion provided	not provided