Submissions for variant NM_000540.3(RYR1):c.14130-8C>G

gnomAD frequency: 0.00242  dbSNP: rs140808099

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180763	SCV000233251	benign	not specified	2014-07-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000180763	SCV000304837	benign	not specified	2018-03-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000400439	SCV000413004	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	RCV000308235	SCV000413005	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.
Illumina Laboratory Services, Illumina	RCV000365160	SCV000413006	likely benign	Neuromuscular disease, congenital, with uniform type 1 fiber	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272964	SCV000413007	likely benign	Central core myopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000542341	SCV000532936	likely benign	not provided	2020-07-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080447	SCV000659840	benign	RYR1-related disorder	2025-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000542341	SCV001151907	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	RYR1: BP4, BS2
Color Diagnostics, LLC DBA Color Health	RCV000400439	SCV004358219	benign	Malignant hyperthermia, susceptibility to, 1	2022-11-06	criteria provided, single submitter	clinical testing