ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2390-16G>A (rs183496025)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237498 SCV000295982 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237498 SCV000599413 likely benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590119 SCV000697228 benign not provided 2016-01-15 criteria provided, single submitter clinical testing
Color Health, Inc RCV000776248 SCV000911500 benign Familial hypercholesterolemia 2017-05-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000237498 SCV000733833 likely benign Familial hypercholesterolemia 1 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001699174 SCV001919199 benign not specified no assertion criteria provided 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.