ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1695C>T (p.Asp565=)

gnomAD frequency: 0.00004  dbSNP: rs140744506
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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 RCV001514644 SCV001722540 benign Severe X-linked myotubular myopathy 2023-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001514644 SCV002084537 likely benign Severe X-linked myotubular myopathy 2020-03-08 no assertion criteria provided clinical testing

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