ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) (rs34934920)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147431 SCV000194840 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203058 SCV000257713 benign Malignant hypothermia 2015-03-25 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000210010 SCV000265710 benign Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000147431 SCV000304960 benign not specified 2018-03-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374303 SCV000412245 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282227 SCV000412246 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348925 SCV000412247 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387436 SCV000412248 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000147431 SCV000522743 benign not specified 2016-03-04 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 RCV000538850 SCV000659963 benign RYR1-Related Disorders 2017-08-21 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119638 SCV000154545 not provided not provided no assertion provided not provided

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