ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.55A>C (p.Ile19Leu)

gnomAD frequency: 0.00003  dbSNP: rs1408923946
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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 RCV000931670 SCV001077341 benign Severe X-linked myotubular myopathy 2023-06-15 criteria provided, single submitter clinical testing

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