ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Paul Sabatier University EA-4555, Paul Sabatier University and "uncertain significance" from any submitter

Minimum review status of the submission from Paul Sabatier University EA-4555, Paul Sabatier University: Collection method of the submission from Paul Sabatier University EA-4555, Paul Sabatier University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg) rs755799430 0.00001
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys) rs727504064

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.