ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1455T>C (p.Ala485=)

gnomAD frequency: 0.00006  dbSNP: rs141358705
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 RCV001514423 SCV001722264 benign Severe X-linked myotubular myopathy 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001514423 SCV002084533 likely benign Severe X-linked myotubular myopathy 2021-04-26 no assertion criteria provided clinical testing

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