ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1060+40G>A (rs192390193)

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 RCV000238371 SCV000295181 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000238371 SCV000987018 likely benign Familial hypercholesterolemia 2019-02-08 criteria provided, single submitter clinical testing Due to the current estimates of databases (LOVD 3), this variant is classified as likely benign.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238371 SCV000606307 benign Familial hypercholesterolemia no assertion criteria provided research

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.