ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.755A>G (p.Lys252Arg)

gnomAD frequency: 0.00005  dbSNP: rs782740989
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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 RCV001514809 SCV001722743 benign Severe X-linked myotubular myopathy 2024-02-29 criteria provided, single submitter clinical testing

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