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
1483 1034 571 395 143 86 2643

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial hypercholesterolemia 1 1437 1006 465 270 124 2 2422
Familial hypercholesterolemia 147 62 79 71 14 0 352
not provided 77 41 53 91 43 85 334
not specified 0 0 32 32 19 0 77
Familial hypercholesterolemia - homozygous 36 20 0 0 0 0 56
Hypercholesterolaemia 3 7 21 5 0 0 36
Early-onset coronary artery disease 1 1 0 0 0 0 2
Hypercholesterolemia 2 0 0 0 0 0 2
Inborn genetic diseases 0 1 1 0 0 0 2
Aortic dissection; Carotid artery dissection; Internal carotid artery dissection; Carotid artery occlusion; Stroke 1 0 0 0 0 0 1
FH LEIDEN 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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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
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 590 0 1 0 95 0 686
Invitae 191 42 72 87 37 0 429
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
Color 42 35 46 82 30 0 231
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
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 75 100 13 5 4 0 197
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 136 1 13 1 1 0 152
Integrated Genetics/Laboratory Corporation of America 51 20 40 17 5 0 133
Iberoamerican FH Network 39 37 36 2 2 0 116
GeneDx 52 17 9 19 15 0 112
Illumina Clinical Services Laboratory,Illumina 5 2 55 41 0 0 103
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 36 20 17 3 7 0 83
Dept. of Genetics and Pharmacogenomics, Merck Research Labs 0 0 0 0 0 79 79
OMIM 65 0 0 0 0 0 65
Quest Diagnostics Nichols Institute San Juan Capistrano 16 5 8 3 10 0 42
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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 9 19 0 0 0 0 28
Stanford Center for Inherited Cardiovascular Disease,Stanford University 18 8 1 0 0 0 27
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 14 5 6 1 0 0 26
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 2 10 13 0 0 25
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 12 2 0 5 5 0 24
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 12 6 0 0 23
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
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
Division of Genomic Diagnostics,The 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
UCSF Pediatric Lipid Clinic, University of California, San Francisco 3 0 0 0 0 0 3
Ambry Genetics 0 1 1 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 1 0 2
GeneReviews 2 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
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 Dortmund,Dr. Eberhard & Partner 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 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

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