ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4024A>G (p.Ser1342Gly) (rs34694816)

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Total submissions: 8
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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 RCV000209973 SCV000265703 benign Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079142 SCV000111011 benign not specified 2017-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000079142 SCV000519597 benign not specified 2016-05-06 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 RCV000079142 SCV000194828 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260420 SCV000412091 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000555541 SCV000659927 benign RYR1-Related Disorders 2017-08-17 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119615 SCV000154522 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079142 SCV000304921 benign not specified 2018-04-03 criteria provided, single submitter clinical testing

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