ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1290C>T (p.Thr430=)

gnomAD frequency: 0.00001  dbSNP: rs374725419
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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 RCV000864927 SCV001005814 benign Severe X-linked myotubular myopathy 2024-04-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000864927 SCV002084530 likely benign Severe X-linked myotubular myopathy 2021-04-15 no assertion criteria provided clinical testing

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