ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1008T>C (p.His336=)

gnomAD frequency: 0.00001  dbSNP: rs1557414128
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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 RCV001437754 SCV001640618 likely benign Severe X-linked myotubular myopathy 2018-11-15 criteria provided, single submitter clinical testing

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