ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.546T>C (p.His182=)

gnomAD frequency: 0.00005  dbSNP: rs782217349
Minimum review status: Collection method:
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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 RCV000898166 SCV001042358 benign Severe X-linked myotubular myopathy 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000898166 SCV002084518 likely benign Severe X-linked myotubular myopathy 2021-04-23 no assertion criteria provided clinical testing

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