ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.1088_1089del (p.Lys363fs) (rs587783752)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724985 SCV000332985 pathogenic not provided 2015-07-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146373 SCV000193657 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing

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