ClinVar Miner

Submissions for variant NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg) (rs28942111)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000003007 SCV000503500 pathogenic Familial hypercholesterolemia 3 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 11, family members = 2 / Software predictions: Damaging
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505185 SCV000599421 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
OMIM RCV000003007 SCV000023165 pathogenic Familial hypercholesterolemia 3 2008-02-12 no assertion criteria provided literature only
GeneReviews RCV000003007 SCV000490153 pathogenic Familial hypercholesterolemia 3 2016-12-08 no assertion criteria provided literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000505185 SCV000606688 pathogenic Familial hypercholesterolemia 1 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.