ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.619C>T (p.Arg207Cys) (rs748140394)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193338 SCV000248774 uncertain significance not specified 2015-04-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319892 SCV000411846 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374580 SCV000411847 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264202 SCV000411848 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321638 SCV000411849 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996854 SCV001151802 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing

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