ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)

dbSNP: rs786200959
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267092 SCV001445273 pathogenic Inborn genetic diseases 2016-05-05 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000170449 SCV000196746 pathogenic Syndromic intellectual disability 2014-12-18 no assertion criteria provided clinical testing
OMIM RCV000167549 SCV000218424 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2015-03-05 no assertion criteria provided literature only

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.