ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1213A>G (p.Ile405Val)

gnomAD frequency: 0.00001  dbSNP: rs373788741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902548 SCV001046973 benign Severe X-linked myotubular myopathy 2023-12-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714153 SCV005279693 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000902548 SCV002084529 likely benign Severe X-linked myotubular myopathy 2020-03-06 no assertion criteria provided clinical testing

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