ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5493G>T (p.Gly1831=) (rs140004449)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079151 SCV000111020 benign not specified 2013-05-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079151 SCV000304963 benign not specified 2017-08-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266347 SCV000412257 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305131 SCV000412258 benign Minicore 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000353002 SCV000412259 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261375 SCV000412260 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001719823 SCV000532763 likely benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Invitae RCV000540227 SCV000659966 benign RYR1-Related Disorders 2020-11-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079151 SCV000194841 likely benign not specified no assertion criteria provided clinical testing

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