ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter) (rs587783771)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146392 SCV000193678 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724986 SCV000332988 pathogenic not provided 2017-05-16 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000146392 SCV000920402 pathogenic Severe X-linked myotubular myopathy 2007-07-02 no assertion criteria provided clinical testing

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