ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1740C>G (p.Ala580=)

gnomAD frequency: 0.00001  dbSNP: rs782365703
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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 RCV002112427 SCV002388945 likely benign Severe X-linked myotubular myopathy 2024-02-03 criteria provided, single submitter clinical testing

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