ClinVar Miner

Variants studied for Hypercholesterolemia, familial, 1

Coded as:
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 risk factor not provided total
1600 1104 1150 553 239 2 2 3442

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LDLR 1499 1082 857 442 152 0 2 2919
APOB 32 8 161 79 34 0 0 263
PCSK9 33 8 102 21 45 0 0 178
LDLR, MIR6886 18 3 8 8 4 0 0 34
APOB, LOC106560211 4 0 12 1 1 0 0 17
LDLR, LOC126862855, LOC126862856 6 0 1 0 0 0 0 6
APOB, APOB3'MAR 0 0 4 1 0 0 0 5
LDLRAP1 0 0 2 1 2 0 0 5
LDLR, LOC126862855 1 1 0 0 1 0 0 3
ABCA1 0 0 2 0 0 0 0 2
DOCK6, LDLR 2 0 0 0 0 0 0 2
EPHX2 0 0 1 0 0 1 0 2
LDLR, LOC126862856 2 1 0 0 0 0 0 2
APOA2 1 0 0 0 0 0 0 1
GHR 0 0 0 0 0 1 0 1
LDLR, LOC126862855, LOC126862856, MIR6886 1 0 0 0 0 0 0 1
LDLR, SMARCA4 1 0 0 0 0 0 0 1
STAP1 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 112
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LDLR-LOVD, British Heart Foundation 576 787 114 181 26 0 0 1684
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 646 0 1 1 113 0 0 761
All of Us Research Program, National Institutes of Health 69 52 305 199 4 0 0 629
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 138 215 27 24 11 0 0 415
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 131 71 138 8 51 0 0 398
Robarts Research Institute, Western University 26 130 100 84 28 0 0 368
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 297 41 1 7 0 0 0 346
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 61 80 173 11 13 0 0 338
Fundacion Hipercolesterolemia Familiar 129 77 113 5 5 0 0 329
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 87 44 125 6 22 0 0 284
Illumina Laboratory Services, Illumina 6 7 178 35 39 0 0 265
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 79 100 13 5 4 0 0 201
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 137 3 13 1 1 0 0 155
Iberoamerican FH Network 41 37 54 2 10 0 0 144
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 84 30 16 0 1 0 0 131
Revvity Omics, Revvity 75 37 12 0 0 0 0 124
Fulgent Genetics, Fulgent Genetics 32 14 54 9 1 0 0 110
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 43 45 0 0 0 0 0 88
Color Diagnostics, LLC DBA Color Health 0 0 5 31 52 0 0 87
OMIM 67 0 0 0 0 2 0 69
Institute of Human Genetics, University of Leipzig Medical Center 30 22 12 0 1 0 0 65
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 16 26 0 0 0 0 0 42
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 11 3 21 4 0 0 0 39
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 15 4 1 10 8 0 0 38
Genome-Nilou Lab 0 3 5 1 28 0 0 37
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 16 6 12 0 0 0 0 34
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 17 5 8 0 0 30
Invitae 19 3 5 0 0 0 0 27
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 10 13 2 0 0 0 0 25
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 2 10 13 0 0 0 25
Mendelics 13 2 2 0 7 0 0 24
Institute for Integrative and Experimental Genomics, University of Luebeck 0 11 0 13 0 0 0 24
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 13 1 0 5 5 0 0 24
MGZ Medical Genetics Center 9 11 3 0 0 0 0 23
New York Genome Center 7 4 10 0 0 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 3 1 7 0 0 15
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 12 3 0 0 0 0 0 15
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 8 3 3 0 0 0 0 14
Genetics and Molecular Pathology, SA Pathology 7 5 1 0 0 0 0 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 3 4 0 0 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 0 13
3billion 8 4 0 0 0 0 0 12
Blueprint Genetics 4 3 2 1 0 0 0 10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 6 1 2 0 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 3 0 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 0 8
Institute of Human Genetics, Medical University Innsbruck 1 4 2 0 0 0 0 7
deCODE genetics, Amgen 2 5 0 0 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 3 1 1 0 1 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 3 1 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 1 0 0 0 5
SNPedia 0 5 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 0 0 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 3 1 1 0 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 4 0 0 0 0 0 0 4
Fundacion Favaloro, PRICAI 3 1 0 0 0 0 0 4
Arcensus 3 1 0 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 1 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 0 3
First Hospital of Lanzhou University, Lanzhou University 1 1 1 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 1 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 2 0 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 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 0 1 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 0 0 1
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation 0 1 0 0 0 0 0 1
Cardiology Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 1 0 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
Research Laboratories, P. D. Hinduja Hospital & MRC 1 0 0 0 0 0 0 1
Department of Cardiology, Government Medical College 1 0 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
Interventional Cardiology Department, Nhan Dan Gia Dinh Hospital 0 1 0 0 0 0 0 1
Department of Clinical Chemistry, Walailak University 0 1 0 0 0 0 0 1

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