ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1678C>T (p.Leu560Phe)

gnomAD frequency: 0.00001  dbSNP: rs1557415135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002205925 SCV002376891 likely benign Severe X-linked myotubular myopathy 2023-01-17 criteria provided, single submitter clinical testing

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