ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) (rs76537615)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239106 SCV000296942 uncertain significance Malignant hypothermia 2015-09-24 criteria provided, single submitter clinical testing
GeneDx RCV000147430 SCV000525209 likely benign not specified 2018-02-16 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 RCV000147430 SCV000194837 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282746 SCV000412209 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342522 SCV000412210 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394130 SCV000412211 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298179 SCV000412212 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553661 SCV000659947 benign RYR1-Related Disorders 2018-01-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000147430 SCV000304950 benign not specified 2016-08-10 criteria provided, single submitter clinical testing

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