ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) (rs373788741)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902548 SCV001046973 benign Severe X-linked myotubular myopathy 2019-12-31 criteria provided, single submitter clinical testing

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