ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile)

gnomAD frequency: 0.00051  dbSNP: rs35334949
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
Genetic Services Laboratory,University of Chicago RCV000503816 SCV000597858 uncertain significance not specified 2017-06-05 criteria provided, single submitter clinical testing
Invitae RCV001434527 SCV001637336 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
GeneDx RCV001434527 SCV001753958 uncertain significance not provided 2019-05-31 criteria provided, single submitter clinical testing 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

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.