ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)

gnomAD frequency: 0.00793  dbSNP: rs80039127
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079124 SCV000110993 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079124 SCV000194797 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079124 SCV000304812 benign not specified 2018-03-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331674 SCV000412891 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386439 SCV000412892 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.
Illumina Laboratory Services, Illumina RCV000296824 SCV000412893 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000351599 SCV000412894 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079124 SCV000527069 benign not specified 2016-07-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000526266 SCV000659793 benign RYR1-related disorder 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477226 SCV002800256 benign Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-07-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000386439 SCV004358209 benign Malignant hyperthermia, susceptibility to, 1 2022-10-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703209 SCV005208290 likely benign not provided criteria provided, single submitter not provided

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