ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.11266C>G (p.Gln3756Glu) (rs4802584)

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Total submissions: 11
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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 RCV000209962 SCV000265740 benign Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147403 SCV000203469 benign not specified 2014-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000147403 SCV000519904 benign not specified 2016-02-17 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 RCV000147403 SCV000194787 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303744 SCV000412793 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337752 SCV000412794 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391423 SCV000412795 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297736 SCV000412796 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000532001 SCV000659762 benign RYR1-Related Disorders 2017-08-22 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119431 SCV000154338 not provided not provided no assertion provided not provided
PreventionGenetics RCV000147403 SCV000304777 benign not specified 2018-03-06 criteria provided, single submitter clinical testing

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