ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10048C>A (p.Arg3350=) (rs200355885)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246640 SCV000304747 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278203 SCV000412704 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351916 SCV000412705 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387845 SCV000412706 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293308 SCV000412707 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488010 SCV000575178 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000246640 SCV000596886 likely benign not specified 2016-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000246640 SCV000726587 likely benign not specified 2018-01-17 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.
PreventionGenetics,PreventionGenetics RCV000488010 SCV000852192 likely benign not provided 2015-11-11 criteria provided, single submitter clinical testing

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