ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1699A>G (p.Asn567Asp)

dbSNP: rs2144697778
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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV001594427 SCV001499910 likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant 2020-12-20 criteria provided, single submitter 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.