ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1054-9_1054-6del

dbSNP: rs782691958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000949144 SCV001095382 benign Severe X-linked myotubular myopathy 2024-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000949144 SCV002084527 likely benign Severe X-linked myotubular myopathy 2021-01-19 no assertion criteria provided clinical testing

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