ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.339T>C (p.Cys113=)

gnomAD frequency: 0.00111  dbSNP: rs147644722
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000354524 SCV000337965 benign not specified 2015-12-24 criteria provided, single submitter clinical testing
Invitae RCV000636899 SCV000758343 benign Severe X-linked myotubular myopathy 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001764249 SCV001988832 benign not provided 2021-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543059 SCV004761628 likely benign MTM1-related disorder 2019-11-14 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.