ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1362C>T (p.Thr454=)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003742463 SCV004477579 likely benign Familial hypercholesterolemia 2023-07-31 criteria provided, single submitter clinical testing
GENinCode PLC RCV003742463 SCV005441721 likely benign Familial hypercholesterolemia 2023-09-11 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).

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.