ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.941-12G>A (rs879254734)

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
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237608 SCV000599353 likely pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter curation
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237608 SCV000503265 pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Iberoamerican FH Network RCV000237608 SCV000748139 likely pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000237608 SCV000295088 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237608 SCV000606280 benign Familial hypercholesterolemia no assertion criteria provided research
Robarts Research Institute,Western University RCV000237608 SCV000782956 uncertain significance Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter 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.