ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.11754T>A (p.Thr3918=) (rs45613041)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147407 SCV000194791 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147407 SCV000203470 benign not specified 2014-04-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147407 SCV000304791 benign not specified 2018-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290595 SCV000412833 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347859 SCV000412834 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408127 SCV000412835 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308081 SCV000412836 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000147407 SCV000519905 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.
Invitae RCV000548874 SCV000659775 benign RYR1-Related Disorders 2017-08-22 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119439 SCV000154346 not provided not provided no assertion provided not provided

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