ClinVar Miner

Variants in gene LDLR

See also:
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 not provided total
1597 1080 866 553 167 86 3106

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial hypercholesterolemia 1 1464 1027 531 261 146 2 2500
Familial hypercholesterolemia 340 146 388 310 48 0 1116
not provided 94 54 63 47 15 85 306
not specified 0 0 45 42 25 0 102
Homozygous familial hypercholesterolemia 38 23 0 0 0 0 61
Hypercholesterolaemia 3 8 21 5 0 0 36
Hypercholesterolemia 2 1 0 0 0 0 3
Inborn genetic diseases 1 2 0 0 0 0 3
none provided 0 2 0 1 0 0 3
Early-onset coronary artery disease 1 1 0 0 0 0 2
Familial type 3 hyperlipoproteinemia 2 0 0 0 0 0 2
Smith-Lemli-Opitz syndrome 0 0 0 0 2 0 2
Aortic dissection; Carotid artery dissection; Internal carotid artery dissection; Carotid artery occlusion; Stroke 1 0 0 0 0 0 1
Autosomal dominant familial hypercholesterolemia 0 0 0 0 1 0 1
FH LEIDEN 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LDLR-LOVD, British Heart Foundation 566 787 113 179 25 0 1670
Invitae 348 71 162 170 37 0 788
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 590 0 1 0 95 0 686
Color Health, Inc 67 62 235 240 32 0 632
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 137 215 27 24 11 0 414
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 297 43 0 4 0 0 344
Fundacion Hipercolesterolemia Familiar 126 77 109 4 4 0 320
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 127 63 55 6 21 0 271
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 79 41 72 3 6 0 201
Robarts Research Institute,Western University 23 129 30 12 7 0 201
Integrated Genetics/Laboratory Corporation of America 84 23 54 27 9 0 197
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 75 100 13 5 4 0 197
Illumina Clinical Services Laboratory,Illumina 5 2 112 28 37 0 184
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 136 1 13 1 1 0 152
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 80 29 16 0 1 0 126
Iberoamerican FH Network 39 37 36 2 2 0 116
GeneDx 53 19 9 19 15 0 115
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 38 24 15 3 7 0 87
Natera, Inc. 12 5 34 17 12 0 80
Dept. of Genetics and Pharmacogenomics, Merck Research Labs 0 0 0 0 0 79 79
Quest Diagnostics Nichols Institute San Juan Capistrano 28 8 14 5 12 0 67
OMIM 65 0 0 0 0 0 65
Broad Institute Rare Disease Group, Broad Institute 12 9 40 4 0 0 65
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 21 30 2 0 0 0 53
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 26 13 8 3 1 0 51
CeGaT Praxis fuer Humangenetik Tuebingen 8 8 13 14 0 0 43
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 15 4 1 10 8 0 38
CSER _CC_NCGL, University of Washington 3 7 21 5 0 0 36
Institute of Human Genetics, University of Leipzig Medical Center 12 11 11 0 1 0 35
Stanford Center for Inherited Cardiovascular Disease, Stanford University 18 8 1 0 0 0 27
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 2 10 13 0 0 25
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 1 10 14 0 0 0 25
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 12 2 0 5 5 0 24
Fulgent Genetics,Fulgent Genetics 13 2 0 0 0 0 15
PreventionGenetics, PreventionGenetics 0 0 0 3 11 0 14
SNPedia 0 5 0 0 0 8 13
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 10 3 0 0 0 0 13
Athena Diagnostics Inc 5 2 2 1 2 0 12
Institute for Integrative and Experimental Genomics,University of Luebeck 0 7 0 4 0 0 11
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics,Hospital Universitario Hospital La Paz 6 0 0 2 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 3 3 1 0 7
Mendelics 1 0 0 0 6 0 7
Blueprint Genetics 4 3 0 0 0 0 7
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 2 1 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 1 0 4
Fundacion Favaloro,PRICAI 3 1 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 1 0 0 3
Ambry Genetics 1 2 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 2 0 0 0 3
UCSF Pediatric Lipid Clinic, University of California, San Francisco 3 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 1 0 2
GeneReviews 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Human Molecular Genetics,Petersburg Nuclear Physics Institute named by B.P.Konstantinov of NRC "Kurchatov Institute" 2 0 0 0 0 0 2
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 1
GBinsight Genetic Testing by GB HealthWatch,Genben Lifesciences Corporation 0 1 0 0 0 0 1
Cardiology Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1

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