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
1452 1040 544 336 133 86 2548

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial hypercholesterolemia 1437 1020 469 280 127 2 2434
Familial hypercholesterolemias 81 46 46 71 14 0 248
not provided 69 32 35 3 10 85 204
not specified 0 0 35 25 19 0 72
Hypercholesterolaemia 3 7 21 5 0 0 36
Early-onset coronary artery disease 1 1 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: 54
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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
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 Lille 2 - CHRU de Lille 297 43 0 4 0 0 344
Fundacion Hipercolesterolemia Familiar 126 77 109 4 4 0 320
Invitae 139 33 51 29 27 0 279
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 130 63 56 6 21 0 276
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 23 147 20 8 3 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 49 8 5 0 133
Iberoamerican FH Network 39 37 36 2 2 0 116
GeneDx 52 17 9 15 15 0 108
Illumina Clinical Services Laboratory,Illumina 5 2 55 41 0 0 103
Dept. of Genetics and Pharmacogenomics, Merck Research Labs 0 0 0 0 0 79 79
OMIM 65 0 0 0 0 0 65
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 22 6 17 3 6 0 54
CSER_CC_NCGL; University of Washington Medical Center 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
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
Fulgent Genetics 13 2 0 0 0 0 15
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
Quest Diagnostics Nichols Institute San Juan Capistrano 3 2 0 0 5 0 10
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 3 1 0 7
Blueprint Genetics, 4 3 0 0 0 0 7
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
HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 0 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
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
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
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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