ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) (rs267606969)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003378 SCV000023536 pathogenic Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 2009-05-26 no assertion criteria provided literature only
OMIM RCV000030874 SCV000023546 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 2006-07-01 no assertion criteria provided literature only

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.