ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.1123-11C>T (rs3745845)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000243592 SCV000724969 likely benign not specified 2017-11-22 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 RCV000119430 SCV000194786 uncertain significance not provided 2013-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295802 SCV000411874 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334467 SCV000411875 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398335 SCV000411876 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280393 SCV000411877 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119430 SCV000154337 not provided not provided no assertion provided not provided
PreventionGenetics RCV000243592 SCV000304772 benign not specified 2016-01-18 criteria provided, single submitter clinical testing

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