ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2121C>A (p.Gly707=) (rs146104858)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000119590 SCV000226736 uncertain significance not provided 2015-06-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000252771 SCV000304874 benign not specified 2016-08-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288116 SCV000411914 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345447 SCV000411915 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 Clinical Services Laboratory,Illumina RCV000383723 SCV000411916 likely benign Minicore myopathy 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 Clinical Services Laboratory,Illumina RCV000291947 SCV000411917 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000252771 SCV000523572 likely benign not specified 2018-02-05 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000119590 SCV000575161 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000252771 SCV000614905 likely benign not specified 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV001085961 SCV000659880 benign RYR1-Related Disorders 2019-12-31 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119590 SCV000154497 not provided not provided no assertion provided not provided

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