ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs)

dbSNP: rs863224883
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
UCLA Clinical Genomics Center, UCLA RCV000195677 SCV000255393 likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type 2013-08-13 criteria provided, single submitter clinical testing
GeneDx RCV004719746 SCV005325387 pathogenic not provided 2023-06-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 753 amino acids are replaced with 19 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25424711, 32424177, 25326637)

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.