ClinVar Miner

Submissions for variant NM_000280.4(PAX6):c.76C>G (p.Arg26Gly) (rs121907913)

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
OMIM RCV000003627 SCV000023790 pathogenic ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE 1998-06-01 no assertion criteria provided literature only
OMIM RCV000003628 SCV000023791 pathogenic Aniridia 1 1998-06-01 no assertion criteria provided literature only
Wessex Regional Genetics Laboratory,Salisbury District Hospital RCV000003628 SCV001055706 likely pathogenic Aniridia 1 2019-08-15 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.