ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11200038)_(11200291_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000498697 SCV000590847 pathogenic Hypercholesterolemia, familial, 1 2015-12-23 criteria provided, single submitter clinical testing complete deletion of one copy of LDLR promotor and exon 1

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.