ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln)

dbSNP: rs1555349221
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
Ambry Genetics RCV000622779 SCV000741705 pathogenic Inborn genetic diseases 2016-07-28 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003236825 SCV003935891 pathogenic Brain-lung-thyroid syndrome 2020-02-28 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.