ClinVar Miner

Submissions for variant GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1

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
Cytogenetics and Genomics Laboratory,University of Washington RCV000203428 SCV000258556 uncertain significance See cases 2015-06-01 criteria provided, single submitter clinical testing Patient also had dupX(6,477,550-8,119,329)x2
Molecular Pathology Laboratory,Cleveland Clinic RCV000993709 SCV000999015 likely pathogenic Autistic disorder of childhood onset 2018-08-01 criteria provided, single submitter clinical testing Three sibs with autism; variant inherited from apparently unaffected father

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.