ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.725+6G>A (rs201679831)

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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 RCV000202682 SCV000257714 uncertain significance Malignant hypothermia 2015-04-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000252878 SCV000305000 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378557 SCV000411850 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286450 SCV000411851 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343659 SCV000411852 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381967 SCV000411853 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000252878 SCV000529446 likely benign not specified 2017-07-31 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 RCV000551427 SCV000660021 likely benign RYR1-Related Disorders 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721647 SCV000852761 likely benign not provided 2017-07-17 criteria provided, single submitter clinical testing

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