ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.145G>A (p.Val49Ile)

dbSNP: rs587783796
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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 RCV000146418 SCV000193704 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000146418 SCV002580385 uncertain significance Severe X-linked myotubular myopathy 2021-08-30 criteria provided, single submitter clinical testing

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