ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1645-8C>T

gnomAD frequency: 0.00002  dbSNP: rs782348896
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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 RCV001523158 SCV001732827 benign Severe X-linked myotubular myopathy 2023-02-28 criteria provided, single submitter clinical testing

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