ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) (rs55876273)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000147401 SCV000614898 benign not specified 2016-11-03 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000210017 SCV000265739 benign Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239124 SCV000296939 benign Malignant hypothermia 2015-08-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147401 SCV000203467 benign not specified 2014-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000147401 SCV000518202 benign not specified 2016-06-03 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 RCV000147401 SCV000194783 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360134 SCV000412760 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549721 SCV000659755 benign RYR1-Related Disorders 2017-08-08 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119417 SCV000154324 not provided not provided no assertion provided not provided
PreventionGenetics RCV000147401 SCV000304760 benign not specified 2018-03-06 criteria provided, single submitter clinical testing

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