ClinVar Miner

Submissions for variant NC_000008.11:g.(?_99467404)_(99521020_?)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
Labcorp Genetics (formerly Invitae), Labcorp RCV001032701 SCV001196008 pathogenic Cohen syndrome 2019-11-02 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 24-30 of the VPS13B gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of Cohen syndrome (PMID: 28631888). Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). 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.