ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1793A>G (p.His598Arg)

gnomAD frequency: 0.00005  dbSNP: rs201373390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875386 SCV001017703 benign Severe X-linked myotubular myopathy 2023-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938357 SCV004761072 likely benign MTM1-related condition 2022-07-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000875386 SCV002084541 likely benign Severe X-linked myotubular myopathy 2021-09-29 no assertion criteria provided clinical testing

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