ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.1089dup (p.Val364fs) (rs587783752)

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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 RCV000193627 SCV000248079 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000583249 SCV000692182 pathogenic Centronuclear myopathy 2014-07-15 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000193627 SCV000920404 pathogenic Severe X-linked myotubular myopathy 2009-04-23 no assertion criteria provided clinical testing

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