ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.137-11T>A

dbSNP: rs1557412659
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521357 SCV000617412 pathogenic not provided 2023-03-13 criteria provided, single submitter clinical testing Also known as c.191-11T>A; Reported in a female patient with mild clinical features of myotubular myopathy and skewed X-inactivation (Flex et al., 2002); Non-canonical splice site variant demonstrated to result in loss of function (Tanner et al., 1999); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 10790201, 12031625, 10063835)

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.