ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)

gnomAD frequency: 0.00011  dbSNP: rs587783806
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146430 SCV000193716 uncertain significance Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000146430 SCV001111936 benign Severe X-linked myotubular myopathy 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000146430 SCV001462911 benign Severe X-linked myotubular myopathy 2020-09-16 no assertion criteria provided clinical testing

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.