ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4107C>T (p.Pro1369=) (rs11882640)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079144 SCV000111013 benign not specified 2013-03-25 criteria provided, single submitter clinical testing
GeneDx RCV000079144 SCV000525344 benign not specified 2016-03-25 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 RCV000079144 SCV000194832 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397147 SCV000412105 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279184 SCV000412106 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336556 SCV000412107 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390408 SCV000412108 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000544598 SCV000659932 benign RYR1-Related Disorders 2018-01-12 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119616 SCV000154523 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079144 SCV000304925 benign not specified 2018-04-02 criteria provided, single submitter clinical testing

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