ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1060+24C>A

gnomAD frequency: 0.00003  dbSNP: rs370478935
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
LDLR-LOVD, British Heart Foundation RCV000238221 SCV000295178 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV001466592 SCV001670596 likely benign Familial hypercholesterolemia 2022-11-08 criteria provided, single submitter clinical testing
GeneDx RCV002225533 SCV002504159 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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.