ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.618del (p.Leu207fs)

dbSNP: rs587782929
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
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut RCV000144177 SCV000188641 pathogenic Atrial septal defect 7 2014-01-01 no assertion criteria provided research Sudden cardiac death risk with previously attributed Familial Atrial Septal defect Secundum type with progressive atrioventricular block

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.