ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1383A>G (p.Gln461=)

gnomAD frequency: 0.00004  dbSNP: rs782410861
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036755 SCV001200135 likely benign Severe X-linked myotubular myopathy 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001036755 SCV002084532 uncertain significance Severe X-linked myotubular myopathy 2021-03-09 no assertion criteria provided clinical testing

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