ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) (rs35180584)

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Total submissions: 13
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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 RCV000209984 SCV000265729 benign Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202878 SCV000257715 benign Malignant hypothermia 2015-06-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147446 SCV000333096 benign not specified 2015-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000147446 SCV000730604 benign not specified 2017-04-17 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.
Genetic Services Laboratory, University of Chicago RCV000147446 SCV000194873 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392959 SCV000412563 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313269 SCV000412564 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335435 SCV000412565 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403812 SCV000412566 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000559842 SCV000660062 benign RYR1-Related Disorders 2017-12-22 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119746 SCV000154653 not provided not provided no assertion provided not provided
PreventionGenetics RCV000147446 SCV000305045 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000119746 SCV000852836 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing

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