ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.620G>A (p.Arg207His)

gnomAD frequency: 0.00005  dbSNP: rs187357952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973856 SCV001121642 benign Severe X-linked myotubular myopathy 2024-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000973856 SCV002084519 likely benign Severe X-linked myotubular myopathy 2020-04-22 no assertion criteria provided clinical testing

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