ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) (rs193919335)

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
Counsyl RCV000169201 SCV000220451 likely pathogenic Muscle eye brain disease 2014-06-25 criteria provided, single submitter literature only
OMIM RCV000004195 SCV000024361 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 2001-11-01 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.