ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1645-17T>A

dbSNP: rs1557415131
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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 RCV003618868 SCV004522648 likely benign Severe X-linked myotubular myopathy 2023-08-29 criteria provided, single submitter clinical testing

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