ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs)

dbSNP: rs199470479
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
OMIM RCV000023482 SCV000044773 pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type 2011-11-11 no assertion criteria provided literature only
Lee Lab(KAT6B), Baylor College of Medicine RCV000128654 SCV000172294 not provided not provided no assertion provided not provided

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.