ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13503G>A (p.Pro4501=) (rs2960319)

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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 RCV000147413 SCV000194804 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147413 SCV000203475 benign not specified 2014-04-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147413 SCV000304822 benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332354 SCV000412971 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389206 SCV000412972 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287861 SCV000412973 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326358 SCV000412974 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000147413 SCV000525519 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.
Invitae RCV000119478 SCV000659820 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119478 SCV000154385 not provided not provided no assertion provided not provided

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