ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7209C>T (p.Arg2403=) (rs78795178)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000147437 SCV000614913 benign not specified 2017-06-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147437 SCV000230647 benign not specified 2014-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000147437 SCV000519964 benign not specified 2016-08-17 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 RCV000147437 SCV000194852 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375459 SCV000412411 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278852 SCV000412412 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336281 SCV000412413 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379077 SCV000412414 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000534397 SCV000660020 benign RYR1-Related Disorders 2017-08-15 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119691 SCV000154598 not provided not provided no assertion provided not provided
PreventionGenetics RCV000147437 SCV000304997 benign not specified 2017-11-08 criteria provided, single submitter clinical testing

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