ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1443C>T (p.His481=)

gnomAD frequency: 0.00001  dbSNP: rs139415150
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
GeneDx RCV000731140 SCV000515789 likely benign not provided 2018-04-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731140 SCV000858918 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV001487542 SCV001692032 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-10-20 criteria provided, single submitter 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.