ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.683G>A (p.Trp228Ter)

gnomAD frequency: 0.00004  dbSNP: rs121918396
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
Mayo Clinic Laboratories, Mayo Clinic RCV004791229 SCV005413367 likely pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing PM2, PM3_supporting, PVS1
OMIM RCV000019445 SCV000039735 pathogenic Familial type 3 hyperlipoproteinemia 1992-11-01 no assertion criteria provided literature only
OMIM RCV000856605 SCV000999139 pathogenic HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) 1992-11-01 no assertion criteria provided literature only

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.