ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9555-13C>T (rs2960328)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147450 SCV000203463 benign not specified 2014-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000147450 SCV000525518 benign not specified 2016-03-29 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 RCV000147450 SCV000194880 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390771 SCV000412652 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309569 SCV000412653 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366462 SCV000412654 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274289 SCV000412655 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119772 SCV000154679 not provided not provided no assertion provided not provided
PreventionGenetics RCV000147450 SCV000305076 benign not specified 2018-04-02 criteria provided, single submitter clinical testing

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