ClinVar Miner

Submissions for variant NC_000008.11:g.(?_99384188)_(99511532_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817950 SCV000958537 pathogenic Cohen syndrome 2018-07-13 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 20-29 of the VPS13B gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with VPS13B-related disease. Sub-genic deletion of exons 20-21 has been determined to be pathogenic (PMID: PMID: 15141358, 16648375). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic.

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.