ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1570G>A (p.Val524Met) (rs730882105)

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
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000161993 SCV000189568 not provided not provided no assertion provided in vitro
LDLR-LOVD, British Heart Foundation RCV000237418 SCV000295501 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000237418 SCV000588588 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research

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.