ClinVar Miner

Variants in gene LDLR

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
2036 1455 1654 1133 230 127 4772

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypercholesterolemia, familial, 1 1540 1122 959 461 156 2 3053
Familial hypercholesterolemia 942 514 868 862 95 1 2876
Cardiovascular phenotype 364 203 236 268 36 0 1107
not provided 261 215 253 104 83 86 830
not specified 0 2 176 129 51 0 332
Dyslipidemia 71 30 23 0 0 0 124
Homozygous familial hypercholesterolemia 66 57 1 0 0 0 124
LDLR-related disorder 28 19 13 28 0 0 88
Hypercholesterolemia 8 8 22 5 0 0 42
Ovarian serous cystadenocarcinoma 0 0 0 0 0 14 14
See cases 11 2 0 0 0 0 13
Gastric cancer 0 0 0 0 0 7 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Acute myeloid leukemia 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Abnormal circulating lipid concentration 1 1 0 0 0 0 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Early-onset coronary artery disease 1 1 0 0 0 0 2
Familial type 3 hyperlipoproteinemia 2 0 0 0 0 0 2
Melanoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Smith-Lemli-Opitz syndrome 0 0 0 0 2 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Autosomal dominant LDLR-related disorders 0 1 0 0 0 0 1
Autosomal dominant familial hypercholesterolemia 0 0 0 0 1 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Cowden syndrome 1 0 1 0 0 0 0 1
FH LEIDEN 1 1 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 0 0 0 1
Hypercholesterolemia, familial, 4 0 1 0 0 0 0 1
Hypercholesterolemia, familial, 4; Hypercholesterolemia, familial, 1 0 1 0 0 0 0 1
Hyperlipidemia 1 0 0 0 0 0 1
LDLR-related familial hypercholesterolemia 1 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 187
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 860 221 411 731 82 0 2302
LDLR-LOVD, British Heart Foundation 562 784 117 175 24 0 1662
Ambry Genetics 364 203 236 268 36 0 1107
Color Diagnostics, LLC DBA Color Health 131 100 443 363 31 0 1067
All of Us Research Program, National Institutes of Health 88 70 376 220 5 0 759
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 588 0 1 0 94 0 683
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 208 72 163 106 17 0 566
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 74 131 308 20 18 0 551
GeneDx 149 105 121 36 29 0 440
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 26 24 11 0 413
Natera, Inc. 99 86 136 46 14 0 381
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 294 40 2 7 0 0 343
Fundacion Hipercolesterolemia Familiar 125 77 103 4 4 0 313
Quest Diagnostics Nichols Institute San Juan Capistrano 104 53 96 21 20 0 294
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 126 63 55 6 21 0 270
GENinCode PLC 59 27 0 78 39 0 203
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 78 41 72 3 6 0 200
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 85 39 30 23 23 0 200
Robarts Research Institute, Western University 21 127 30 12 7 0 197
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 73 99 13 5 4 0 194
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 94 51 34 1 0 0 180
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 75 69 19 4 9 0 176
Illumina Laboratory Services, Illumina 10 7 88 24 37 0 166
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 134 3 13 1 1 0 152
Revvity Omics, Revvity 85 45 16 0 0 0 146
CeGaT Center for Human Genetics Tuebingen 50 33 9 32 13 0 137
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 55 65 11 0 0 0 131
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 79 29 16 0 1 0 125
Mayo Clinic Laboratories, Mayo Clinic 51 28 24 8 15 0 125
Iberoamerican FH Network 38 37 36 2 2 0 115
Fulgent Genetics, Fulgent Genetics 30 14 54 9 1 0 108
PreventionGenetics, part of Exact Sciences 28 19 13 31 11 0 102
Institute of Human Genetics, University of Leipzig Medical Center 47 24 19 0 1 0 91
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 43 45 0 0 0 0 88
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 26 13 12 14 18 0 83
Dept. of Genetics and Pharmacogenomics, Merck Research Labs 0 0 0 0 0 79 79
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 44 41 2 0 0 0 79
Clinical Genetics, Academic Medical Center 33 6 2 7 23 0 71
Breakthrough Genomics, Breakthrough Genomics 0 0 3 17 49 0 69
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 12 14 35 4 0 0 65
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 32 5 1 10 14 0 62
OMIM 61 0 0 0 0 0 61
Juno Genomics, Hangzhou Juno Genomics, Inc 29 26 3 0 0 0 58
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 28 10 6 0 0 0 44
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 42 42
AiLife Diagnostics, AiLife Diagnostics 10 15 16 0 0 0 41
Clinical Genetics Laboratory, Skane University Hospital Lund 25 13 2 0 0 0 40
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
Genome-Nilou Lab 0 3 5 1 27 0 36
Mendelics 13 1 17 0 3 0 34
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 2 2 1 0 0 32
Variantyx, Inc. 12 16 0 0 0 0 28
3billion 14 9 3 0 0 0 26
Stanford Center for Inherited Cardiovascular Disease, Stanford University 17 8 1 0 0 0 26
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 2 10 13 0 0 25
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 12 5 7 0 1 0 25
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 3 11 11 0 0 0 25
MGZ Medical Genetics Center 8 11 3 0 0 0 22
New York Genome Center 7 5 10 0 0 0 22
Centre of Medical Genetics, University Hospital Muenster 15 2 0 1 0 0 18
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 8 3 2 3 0 0 16
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 5 4 6 0 0 0 15
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 12 3 0 0 0 0 15
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 8 4 2 0 0 0 14
Dasa 12 1 0 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 3 0 9 0 1 0 13
Genetics and Molecular Pathology, SA Pathology 7 5 1 0 0 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 4 1 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 6 4 3 0 0 0 13
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 9 4 0 0 0 0 13
SNPedia 0 5 0 0 0 8 13
The Key Laboratory of Remodeling–Related Cardiovascular Diseases, Beijing Institute of Heart, Lung and Blood Vessel Diseases 13 0 0 0 0 0 13
Athena Diagnostics 5 2 2 1 2 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 7 2 0 11
Cohesion Phenomics 0 0 0 1 10 0 11
Institute of Immunology and Genetics Kaiserslautern 6 4 1 0 0 0 11
Medical and Scientific Branch, Hong Kong Genome Institute 8 3 0 0 0 0 11
Institute for Integrative and Experimental Genomics, University of Luebeck 0 6 0 4 0 0 10
Institute of Human Genetics Munich, TUM University Hospital 4 5 0 0 0 0 9
Molecular Genetics, Royal Melbourne Hospital 5 2 1 0 1 0 9
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 5 3 0 0 0 0 8
Blueprint Genetics 4 3 0 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 3 1 0 7
Institute of Human Genetics, Medical University Innsbruck 1 4 2 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 1 2 0 0 0 7
deCODE genetics, Amgen 2 5 0 0 0 0 7
Hadassah Hebrew University Medical Center 6 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 5 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 2 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 0 0 0 0 5
Institute of Human Genetics, Heidelberg University 2 3 0 0 0 0 5
Kazan State Medical University, Kazan State Medical University 1 1 3 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 2 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 1 0 0 0 5
Arcensus 3 1 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 1 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 0 0 2 0 4
Clinical Genetics Laboratory, Region Ostergotland 1 3 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 3 0 1 0 0 0 4
First Hospital of Lanzhou University, Lanzhou University 1 2 1 0 0 0 4
Fundacion Favaloro, PRICAI 3 1 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 2 0 1 1 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 2 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 3 1 0 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 0 0 1 0 4
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 2 2 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 2 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 0 0 0 0 3
Genetics Department, Catlab 3 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 2 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 3 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 0 0 0 0 3
Khoo Teck Puat Hospital, NHG Health 2 0 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 2 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
UCSF Pediatric Lipid Clinic, University of California, San Francisco 3 0 0 0 0 0 3
Baylor Genetics 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
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 1 1 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 0 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
MVZ Dr. Eberhard & Partner Dortmund 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Phosphorus, Inc. 0 0 1 1 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Research Laboratories, P. D. Hinduja Hospital & MRC 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 0 1
Cardiology Department, Cho Ray Hospital 0 0 1 0 0 0 1
Cardiology Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Department of Cardiology, Government Medical College 1 0 0 0 0 0 1
Department of Clinical Chemistry, Walailak University 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 0 0 0 0 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
Futema Lab, City St. George's, University of London 0 1 0 0 0 0 1
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 1
Heart Center of Excellence, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 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
Institute of Clinical Chemistry and Institute of Clinical Molecular Biology, University Hospital Schleswig-Holstein, Campus Kiel 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Interventional Cardiology Department, Nhan Dan Gia Dinh Hospital 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 0 1 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Suma Genomics 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

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