ClinVar Miner

Variants in gene PCSK9

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association total
41 13 223 161 82 4 403

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
Familial hypercholesterolemia 1 33 7 125 48 45 0 208
Familial hypercholesterolemia 1 2 55 66 18 0 142
not provided 2 1 24 57 42 0 114
Familial hypercholesterolemia 3 7 4 43 20 13 0 84
Familial hypobetalipoproteinemia 0 0 45 30 0 0 75
not specified 0 0 12 19 20 0 47
Hypocholesterolemia 4 0 0 0 0 0 4
Low density lipoprotein cholesterol level quantitative trait locus 1 0 0 0 0 0 4 4
PCSK9-Related Disorders 0 0 3 0 0 0 3
Severe Myopia 0 0 2 0 0 0 2
Familial hypercholesterolemia - homozygous 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Color 0 1 57 75 40 0 167
Invitae 0 3 32 59 35 0 129
Illumina Clinical Services Laboratory,Illumina 1 1 57 31 0 0 89
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 1 6 44 0 19 0 70
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 34 0 0 1 15 0 50
Integrated Genetics/Laboratory Corporation of America 2 2 15 6 19 0 44
GeneDx 1 0 3 14 13 0 31
Robarts Research Institute,Western University 1 0 13 7 9 0 30
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 3 1 9 6 0 0 19
PreventionGenetics,PreventionGenetics 0 0 0 5 13 0 18
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 2 14 0 18
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 1 0 11 0 5 0 17
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 11 0 14
Iberoamerican FH Network 1 0 5 0 6 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 1 0 0 9
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 6 0 1 0 8
OMIM 3 0 0 0 0 4 7
GeneReviews 5 0 0 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 1 1 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 2 0 1 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 1 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 2
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 1 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 1 1 0 0 2
Institute of Human Genetics,Polish Academy of Sciences 0 0 2 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 0 1 0 1

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