ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1359-6C>T

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
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497075 SCV000588578 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV001189132 SCV001356344 likely benign Familial hypercholesterolemia 2019-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001189132 SCV001633708 likely benign Familial hypercholesterolemia 2023-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001575765 SCV001802823 likely benign not provided 2018-08-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000497075 SCV004816544 likely benign Hypercholesterolemia, familial, 1 2023-12-01 criteria provided, single submitter 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.