ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1270G>T (p.Gly424Ter)

dbSNP: rs1555990805
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001251045 SCV001423578 pathogenic Intellectual disability 2020-07-20 criteria provided, single submitter clinical testing de novo truncating variant.

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.