ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.9501A>G (p.Ala3167=)

gnomAD frequency: 0.00152  dbSNP: rs140401958
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
CeGaT Center for Human Genetics Tuebingen RCV001815664 SCV002062404 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing VPS13D: BP4, BP7
Invitae RCV001815664 SCV002403989 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956380 SCV004785129 likely benign VPS13D-related disorder 2019-03-18 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).

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.