ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.664C>T (p.Arg222Ter) (rs587783847)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000146473 SCV000920407 pathogenic Severe X-linked myotubular myopathy 2009-11-24 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000146473 SCV000193761 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing

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