Submissions for variant NM_000540.3(RYR1):c.11360-9T>A

gnomAD frequency: 0.00260  dbSNP: rs150187840

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180403	SCV000232830	likely benign	not specified	2014-10-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000180403	SCV000304779	benign	not specified	2018-01-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000274624	SCV000412801	likely benign	Congenital multicore myopathy with external ophthalmoplegia	2018-01-12	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	RCV000327243	SCV000412802	likely benign	Central core myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000365631	SCV000412803	likely benign	Malignant hyperthermia, susceptibility to, 1	2018-01-12	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	RCV000268846	SCV000412804	likely benign	Neuromuscular disease, congenital, with uniform type 1 fiber	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000533611	SCV000659765	benign	RYR1-related disorder	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001721130	SCV000724013	likely benign	not provided	2021-02-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000365631	SCV004358195	benign	Malignant hyperthermia, susceptibility to, 1	2022-09-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000365631	SCV004822728	benign	Malignant hyperthermia, susceptibility to, 1	2024-02-05	criteria provided, single submitter	clinical testing