ClinVar Miner

Variants in gene LDLR

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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
1942 1337 1491 1085 216 88 4457

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypercholesterolemia, familial, 1 1512 1099 949 464 155 2 3026
Familial hypercholesterolemia 814 332 670 817 89 1 2458
Cardiovascular phenotype 329 171 206 240 33 0 979
not provided 237 190 222 88 76 86 736
not specified 0 2 141 110 48 0 278
Homozygous familial hypercholesterolemia 66 57 1 0 0 0 124
Dyslipidemia 55 29 14 0 0 0 98
LDLR-related disorder 28 19 13 28 0 0 88
Hypercholesterolemia 8 8 22 5 0 0 42
See cases 9 1 0 0 0 0 10
Abnormal circulating lipid concentration 1 1 0 0 0 0 2
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
Autosomal dominant familial hypercholesterolemia 0 0 0 0 1 0 1
Cowden syndrome 1 0 1 0 0 0 0 1
FH LEIDEN 1 1 0 0 0 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 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
Syndromic X-linked intellectual disability Najm type 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 168
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 780 191 357 709 76 0 2110
LDLR-LOVD, British Heart Foundation 562 784 117 175 24 0 1662
Ambry Genetics 329 171 206 240 33 0 979
Color Diagnostics, LLC DBA Color Health 119 88 345 315 31 0 897
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
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 70 109 242 18 16 0 455
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 167 50 131 88 16 0 452
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 137 214 27 24 11 0 413
GeneDx 136 91 101 36 29 0 393
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
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 126 63 55 6 21 0 270
Quest Diagnostics Nichols Institute San Juan Capistrano 84 38 78 14 19 0 233
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 78 41 72 3 6 0 200
Robarts Research Institute, Western University 21 127 30 12 7 0 197
Natera, Inc. 38 14 85 44 14 0 195
Illumina Laboratory Services, Illumina 10 7 112 28 37 0 194
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 73 99 13 5 4 0 194
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 75 69 19 4 9 0 176
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 70 39 21 18 22 0 170
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 134 3 13 1 1 0 152
GENinCode PLC 39 0 0 52 39 0 130
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 79 29 16 0 1 0 125
Revvity Omics, Revvity 74 37 11 0 0 0 122
Iberoamerican FH Network 38 37 36 2 2 0 115
CeGaT Center for Human Genetics Tuebingen 43 30 7 26 3 0 109
Fulgent Genetics, Fulgent Genetics 30 14 54 9 1 0 108
PreventionGenetics, part of Exact Sciences 28 19 13 31 11 0 102
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 43 45 0 0 0 0 88
Institute of Human Genetics, University of Leipzig Medical Center 40 25 15 0 1 0 81
Mayo Clinic Laboratories, Mayo Clinic 38 23 19 0 0 0 79
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 44 41 2 0 0 0 79
Dept. of Genetics and Pharmacogenomics, Merck Research Labs 0 0 0 0 0 79 79
Clinical Genetics, Academic Medical Center 33 6 2 7 23 0 71
Breakthrough Genomics, Breakthrough Genomics 0 0 3 17 49 0 69
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 19 9 9 10 18 0 65
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 24 23 3 0 0 0 50
AiLife Diagnostics, AiLife Diagnostics 10 15 16 0 0 0 41
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 12 1 15 0 4 0 32
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 1 2 1 0 0 31
Clinical Genetics Laboratory, Skane University Hospital Lund 21 5 2 0 0 0 28
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
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 5 5 0 1 0 18
3billion 7 7 2 0 0 0 16
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 12 3 0 0 0 0 15
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 5 4 6 0 0 0 15
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 8 4 2 0 0 0 14
SNPedia 0 5 0 0 0 8 13
Genetics and Molecular Pathology, SA Pathology 7 5 1 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 3 0 9 0 1 0 13
Institute of Human Genetics, University Hospital Muenster 11 1 0 1 0 0 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
Neuberg Centre For Genomic Medicine, NCGM 6 3 3 0 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 7 4 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 7 4 0 0 0 0 11
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 for Integrative and Experimental Genomics, University of Luebeck 0 6 0 4 0 0 10
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
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
Institute of Human Genetics, Medical University Innsbruck 1 4 2 0 0 0 7
Blueprint Genetics 4 3 0 0 0 0 7
deCODE genetics, Amgen 2 5 0 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 1 2 0 0 0 7
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 5 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 1 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
Institute of Immunology and Genetics Kaiserslautern 1 3 1 0 0 0 5
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 2 0 0 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 0 0 2 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 0 0 1 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 3 1 0 0 0 0 4
Clinical Genetics Laboratory, Region Ostergotland 1 3 0 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
Arcensus 3 1 0 0 0 0 4
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 2 2 0 0 0 0 4
First Hospital of Lanzhou University, Lanzhou University 1 2 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 1 0 1 1 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 2 0 3
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 2 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics, Heidelberg University 1 2 0 0 0 0 3
UCSF Pediatric Lipid Clinic, University of California, San Francisco 3 0 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 3 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 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
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
Phosphorus, Inc. 0 0 1 1 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 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
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 0 0 0 0 0 2
DASA 1 1 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 2
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 1 1 0 0 0 0 2
Research Laboratories, P. D. Hinduja Hospital & MRC 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 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 Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
GeneReviews 1 0 0 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 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
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 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
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Cardiology, Government Medical College 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Interventional Cardiology Department, Nhan Dan Gia Dinh Hospital 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 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
Cardiology Department, Cho Ray Hospital 0 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 0 1 0 0 0 1
Futema Lab, City St. George's, University of London 0 1 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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