ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) (rs879254386)

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 RCV000237793 SCV000294417 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237793 SCV000503092 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1, family members =2 with co-segregation / software predictions: conflicting
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237793 SCV000583623 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing ACMG Guidelines: Likely Pathogenic (ii)
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000237793 SCV000588480 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237793 SCV000605997 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000237793 SCV000733809 pathogenic Familial hypercholesterolemia 1 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.