ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter)

dbSNP: rs587783778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146399 SCV000193685 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000146399 SCV005049821 pathogenic Severe X-linked myotubular myopathy 2024-03-24 criteria provided, single submitter clinical testing

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