ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.11908-14A>G (rs2292799)

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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 RCV000147408 SCV000203472 benign not specified 2014-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000147408 SCV000519906 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 RCV000147408 SCV000194793 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262666 SCV000412841 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301468 SCV000412842 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354029 SCV000412843 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261527 SCV000412844 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119442 SCV000154349 not provided not provided no assertion provided not provided
PreventionGenetics RCV000147408 SCV000304795 benign not specified 2018-03-06 criteria provided, single submitter clinical testing

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