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 not provided total
47 23 620 507 123 5 5 1094

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Familial hypercholesterolemia 2 3 335 261 33 1 0 632
Hypercholesterolemia, autosomal dominant, 3 15 14 250 307 75 0 5 600
Cardiovascular phenotype 0 1 124 154 22 0 0 301
Hypercholesterolemia, familial, 1 33 8 102 21 45 0 0 178
not provided 5 4 64 43 50 0 0 136
not specified 0 0 53 40 51 0 0 132
Hypobetalipoproteinemia 0 0 57 21 24 0 0 102
Familial hypobetalipoproteinemia 0 0 29 3 0 0 0 32
PCSK9-related condition 0 1 8 16 0 0 0 25
Inborn genetic diseases 0 0 7 2 0 0 0 9
Hypocholesterolemia 4 0 0 0 0 0 0 4
Low density lipoprotein cholesterol level quantitative trait locus 1 0 0 0 0 0 4 0 4
PCSK9-Related Disorders 0 0 3 0 0 0 0 3
Short fetal femur length 1 0 2 0 0 0 0 3
High myopia 0 0 2 0 0 0 0 2
Homozygous familial hypercholesterolemia 1 0 0 0 0 0 0 1
Hypercholesterolemia 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Color Diagnostics, LLC DBA Color Health 1 1 333 270 44 0 0 643
Invitae 13 6 154 274 63 0 0 510
Ambry Genetics 0 1 131 156 22 0 0 310
Illumina Laboratory Services, Illumina 1 1 97 34 27 0 0 144
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 45 25 45 0 0 117
GeneDx 2 2 26 23 20 0 0 73
Fulgent Genetics, Fulgent Genetics 0 0 60 9 2 0 0 71
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 1 6 44 0 19 0 0 70
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 16 5 36 0 0 57
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 34 0 0 1 15 0 0 50
PreventionGenetics, part of Exact Sciences 0 1 8 21 13 0 0 43
CeGaT Center for Human Genetics Tuebingen 1 0 3 21 7 0 0 32
Robarts Research Institute, Western University 1 0 13 7 9 0 0 30
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 21 0 0 24
Clinical Genetics, Academic Medical Center 0 1 2 2 15 0 0 20
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 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 4 13 0 0 19
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 1 0 11 0 5 0 0 17
Mendelics 1 0 10 0 3 0 0 14
Iberoamerican FH Network 1 0 5 0 6 0 0 12
Cohesion Phenomics 0 0 0 0 12 0 0 12
New York Genome Center 0 0 9 0 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 5 0 1 0 0 8
OMIM 3 0 0 0 0 4 0 7
Genome-Nilou Lab 0 0 0 0 7 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 1 0 5 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 0 6 0 0 0 0 6
AiLife Diagnostics, AiLife Diagnostics 0 0 6 0 0 0 0 6
GeneReviews 0 0 0 0 0 0 5 5
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 4 0 0 0 5
Revvity Omics, Revvity 1 1 2 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 3 0 0 0 0 4
Phosphorus, Inc. 0 0 3 1 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 3 0 0 0 0 4
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 4 0 0 0 0 0 4
Baylor Genetics 1 2 0 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 1 1 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 2 0 1 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 2 1 0 0 0 3
Phenosystems SA 1 0 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Institute for Integrative and Experimental Genomics, University of Luebeck 0 1 0 1 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 0 2
Institute of Human Genetics, Polish Academy of Sciences 0 0 2 0 0 0 0 2
Kazan State Medical University, Kazan State Medical University 0 0 2 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 1 0 0 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 1

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