ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4074G>A (p.Gly1358=) (rs372178862)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000343071 SCV000412101 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376680 SCV000412102 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284547 SCV000412103 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337726 SCV000412104 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000433314 SCV000527817 likely benign not specified 2017-08-23 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 RCV000721519 SCV000852599 likely benign not provided 2016-09-27 criteria provided, single submitter clinical testing

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