ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)

gnomAD frequency: 0.00002  dbSNP: rs771667880
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726218 SCV000342961 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000266439 SCV000597913 uncertain significance not specified 2015-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765980 SCV000897404 uncertain significance Cohen syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765980 SCV001043492 benign Cohen syndrome 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910016 SCV004720357 likely benign VPS13B-related disorder 2022-09-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000765980 SCV001454804 benign Cohen syndrome 2020-09-16 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.