ClinVar Miner

Submissions for variant GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)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
GeneDx RCV000052317 SCV000079669 uncertain significance See cases 2019-03-26 criteria provided, single submitter clinical testing The deleted interval contains 27 genes and transcripts; three of these genes, ERCC6, CHAT, and SLC18A3 are associated with inherited human disorders. Recurrent deletions of 10q11.22 have been described in individuals with a highly variable phenotype including developmental delay and intellectual disability. Autism spectrum disorders, epilepsy, and dysmorphic features have also been reported. Parental testing showed that deletions of this region were inherited from apparently normal parents in most cases, suggesting that additional factors likely play a role in the development of an abnormal phenotype. As such, the clinical consequence of this deletion is unknown. This region in its entirety is not known to vary in copy number in the normal population.
ISCA site 1 RCV000139346 SCV000179882 likely pathogenic See cases 2012-10-24 no assertion criteria provided clinical testing

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.