ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)

gnomAD frequency: 0.00011  dbSNP: rs587783806
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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 RCV000146430 SCV000193716 uncertain significance Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000146430 SCV001111936 benign Severe X-linked myotubular myopathy 2024-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000146430 SCV001462911 benign Severe X-linked myotubular myopathy 2020-09-16 no assertion criteria provided clinical testing

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