ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) (rs147012990)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000210003 SCV000265730 uncertain significance Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000253393 SCV000305072 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000721732 SCV000338075 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335822 SCV000412628 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404978 SCV000412629 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300656 SCV000412630 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357829 SCV000412631 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000253393 SCV000518386 likely benign not specified 2015-08-11 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.
Invitae RCV000559398 SCV000660082 likely benign RYR1-Related Disorders 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721732 SCV000852861 likely benign not provided 2017-07-25 criteria provided, single submitter clinical testing

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