ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6487A>G (p.Ile2163Val)

gnomAD frequency: 0.00001  dbSNP: rs794727599
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
Eurofins Ntd Llc (ga) RCV000177921 SCV000229882 uncertain significance not provided 2015-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000177921 SCV001766094 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001832018 SCV002082611 uncertain significance Cohen syndrome 2020-12-01 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.