ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.787G>A (p.Val263Ile)

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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 RCV003508810 SCV004290283 likely benign Severe X-linked myotubular myopathy 2023-05-19 criteria provided, single submitter clinical testing

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