ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.605del (p.Leu202fs) (rs672601325)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011810 SCV000032043 pathogenic Severe X-linked myotubular myopathy 2003-04-22 no assertion criteria provided literature only

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