ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1587-?_1845+?del

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
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211679 SCV000322961 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000211679 SCV000588596 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000211679 SCV000607610 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211679 SCV000268670 pathogenic Hypercholesterolemia, familial, 1 2008-06-25 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.