ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser)

dbSNP: rs1569565497
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000781957 SCV000920410 pathogenic Severe X-linked myotubular myopathy 2010-09-27 no assertion criteria provided clinical testing

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