ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.66G>A (p.Thr22=)

gnomAD frequency: 0.00004  dbSNP: rs781793926
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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 RCV001482314 SCV001686679 likely benign Severe X-linked myotubular myopathy 2023-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001482314 SCV002084504 likely benign Severe X-linked myotubular myopathy 2020-06-21 no assertion criteria provided clinical testing

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