ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.912C>T (p.Ala304=)

dbSNP: rs782504569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450270 SCV001653872 likely benign Severe X-linked myotubular myopathy 2023-10-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001450270 SCV002084524 likely benign Severe X-linked myotubular myopathy 2020-04-11 no assertion criteria provided clinical testing

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