ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-217C>T (rs17249141)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237379 SCV000294360 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237379 SCV000599293 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Invitae RCV000863456 SCV001004122 likely benign Familial hypercholesterolemia 2020-12-04 criteria provided, single submitter clinical testing
Color Health, Inc RCV000863456 SCV001350798 benign Familial hypercholesterolemia 2018-03-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000863456 SCV001463949 likely benign Familial hypercholesterolemia 2020-01-06 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.