ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) (rs774698247)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211700 SCV000295931 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Color RCV000776247 SCV000911499 likely benign Familial hypercholesterolemia 2020-01-23 criteria provided, single submitter clinical testing
Invitae RCV000776247 SCV001012665 benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211700 SCV000268662 uncertain significance Familial hypercholesterolemia 1 2010-04-13 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.