ClinVar Miner

Variants in gene PCSK9

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
42 13 437 297 99 4 731

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
Familial hypercholesterolemia 1 3 254 215 19 0 489
Familial hypercholesterolemia 3 9 4 135 105 54 0 266
Familial hypercholesterolemia 1 33 7 102 21 45 0 178
Hypobetalipoproteinemia 0 0 58 21 24 0 103
not provided 2 1 26 32 25 0 80
not specified 0 0 18 27 30 0 69
Familial hypobetalipoproteinemia 0 0 29 3 0 0 32
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
Homozygous familial hypercholesterolemia 1 0 0 0 0 0 1
none provided 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Color Health, Inc 0 1 255 224 41 0 515
Invitae 1 3 68 83 35 0 190
Illumina Clinical Services Laboratory,Illumina 1 1 98 34 27 0 144
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 1 6 44 0 19 0 70
Integrated Genetics/Laboratory Corporation of America 2 2 22 13 27 0 66
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 34 0 0 1 15 0 50
GeneDx 1 0 3 14 13 0 31
Robarts Research Institute,Western University 1 0 13 7 9 0 30
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 2 18 0 24
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 5 0 0 13
Iberoamerican FH Network 1 0 5 0 6 0 12
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
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 4 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 3 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 1 0 3 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 2 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 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
Institute of Human Genetics,Polish Academy of Sciences 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 1
Mendelics 0 0 0 0 1 0 1
Lineagen, Inc 0 0 1 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
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 1 0 0 0 0 1

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