ClinVar Miner

Variants studied for Hypercholesterolemia, familial, 1

Coded as:
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
1682 1147 1196 570 241 2 3556

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LDLR 1540 1122 959 461 156 2 3053
APOB 33 8 136 79 34 0 239
PCSK9 33 8 72 19 45 0 145
LDLR, MIR6886 20 6 8 10 4 0 39
APOB, LOC106560211 4 0 11 0 1 0 16
LDLR, LOC126862855, LOC126862856 7 0 1 0 0 0 7
ABCA1 0 0 3 0 0 0 3
EPHX2 1 0 2 0 0 0 3
LDLR, LOC126862855 1 1 0 0 1 0 3
DOCK6, LDLR 2 0 0 0 0 0 2
INPP4B 2 0 0 0 0 0 2
LDLR, LOC126862856 2 1 0 0 0 0 2
PDE1C, PPP1R17 0 0 2 0 0 0 2
SAMD8 2 0 0 0 0 0 2
ABCA5 1 0 0 0 0 0 1
ABCA8 1 0 0 0 0 0 1
AGK 1 0 0 0 0 0 1
AGMO 1 0 0 0 0 0 1
AGPAT5 1 0 0 0 0 0 1
APOA2 1 0 0 0 0 0 1
APOB, APOB3'MAR 0 0 0 1 0 0 1
ATP8A1 1 0 0 0 0 0 1
B3GALT1 1 0 0 0 0 0 1
BPNT1 1 0 0 0 0 0 1
CCKBR, LOC126861124 1 0 0 0 0 0 1
DGKG 1 0 0 0 0 0 1
DGKH 1 0 0 0 0 0 1
ESCO2 1 0 0 0 0 0 1
FFAR1 1 0 0 0 0 0 1
FNTA 1 0 0 0 0 0 1
G6PD, IKBKG 1 0 0 0 0 0 1
GHR 1 0 0 0 0 0 1
LACTB 1 0 0 0 0 0 1
LDLR, LOC126862855, LOC126862856, MIR6886 1 0 0 0 0 0 1
LDLR, SMARCA4 1 0 0 0 0 0 1
LDLRAP1 0 0 1 0 0 0 1
LOC126862264, MEFV 0 0 1 0 0 0 1
MBTPS2 1 0 0 0 0 0 1
MIB1 1 0 0 0 0 0 1
NAPEPLD 1 0 0 0 0 0 1
OCRL 1 0 0 0 0 0 1
OXSM 1 0 0 0 0 0 1
PHYHD1 1 0 0 0 0 0 1
PLEKHA3 1 0 0 0 0 0 1
PLEKHA5 1 0 0 0 0 0 1
RBP3 1 0 0 0 0 0 1
RCHY1 1 0 0 0 0 0 1
SPTLC2 1 0 0 0 0 0 1
SPTY2D1 1 0 0 0 0 0 1
SQLE 1 0 0 0 0 0 1
ST6GALNAC5 1 0 0 0 0 0 1
STAP1 0 1 0 0 0 0 1
UGGT1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 148
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LDLR-LOVD, British Heart Foundation 576 787 112 178 26 0 1679
All of Us Research Program, National Institutes of Health 90 72 380 227 5 0 774
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 646 0 1 1 113 0 761
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 77 133 309 20 18 0 557
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 138 216 26 24 11 0 415
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 131 71 138 8 51 0 398
Robarts Research Institute, Western University 26 130 100 84 28 0 368
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 297 40 2 7 0 0 346
Fundacion Hipercolesterolemia Familiar 129 77 113 5 5 0 329
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 87 44 125 6 22 0 284
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 79 100 13 5 4 0 201
Illumina Laboratory Services, Illumina 10 7 89 24 37 0 167
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 137 3 13 1 1 0 155
Revvity Omics, Revvity 87 45 17 0 0 0 149
Iberoamerican FH Network 41 37 54 2 10 0 144
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 84 30 16 0 1 0 131
Fulgent Genetics, Fulgent Genetics 32 14 54 9 1 0 110
Institute of Human Genetics, University of Leipzig Medical Center 48 24 19 0 1 0 92
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 43 45 0 0 0 0 88
Color Diagnostics, LLC DBA Color Health 0 0 5 30 52 0 86
OMIM 69 0 0 0 0 0 69
Juno Genomics, Hangzhou Juno Genomics, Inc 29 25 3 0 0 0 57
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 28 10 6 0 0 0 44
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 16 26 0 0 0 0 42
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 11 5 19 4 0 0 39
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 15 4 1 10 8 0 38
Genome-Nilou Lab 0 3 5 1 28 0 37
Research Laboratories, P. D. Hinduja Hospital & MRC 37 0 0 0 0 0 37
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 2 2 1 0 0 32
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 17 5 8 0 30
3billion 15 9 3 0 0 0 27
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 12 5 7 2 1 0 27
Labcorp Genetics (formerly Invitae), Labcorp 19 3 5 0 0 0 27
Mendelics 14 2 4 0 7 0 27
Variantyx, Inc. 12 15 0 0 0 0 27
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 2 10 13 0 0 25
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 10 13 2 0 0 0 25
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 13 1 0 5 5 0 24
Institute for Integrative and Experimental Genomics, University of Luebeck 0 11 0 13 0 0 24
MGZ Medical Genetics Center 9 11 3 0 0 0 23
New York Genome Center 7 6 10 0 0 0 23
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 9 4 8 0 0 0 21
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 8 3 2 3 0 0 16
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
Genetics and Molecular Pathology, SA Pathology 7 5 1 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 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 4 0 0 0 0 12
Medical and Scientific Branch, Hong Kong Genome Institute 9 3 0 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 2 1 7 0 12
Institute of Immunology and Genetics Kaiserslautern 6 4 1 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 5 3 3 0 0 0 11
Blueprint Genetics 4 3 2 1 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 7 0 1 0 9
Institute of Human Genetics Munich, TUM University Hospital 4 5 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 6 1 2 0 0 0 9
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 5 3 0 0 0 0 8
Institute of Human Genetics, Medical University Innsbruck 1 4 2 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 4 1 1 0 1 0 7
deCODE genetics, Amgen 2 5 0 0 0 0 7
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 1 4 1 0 0 0 6
Hadassah Hebrew University Medical Center 6 0 0 0 0 0 6
Institute of Human Genetics, University Hospital of Duesseldorf 5 1 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 3 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 0 0 1 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 2 0 0 0 0 5
Centre of Medical Genetics, University Hospital Muenster 4 0 0 1 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
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
SNPedia 0 5 0 0 0 0 5
Arcensus 3 1 0 0 0 0 4
Clinical Genetics Laboratory, Region Ostergotland 1 3 0 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 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
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 2 2 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 0 0 0 3
Khoo Teck Puat Hospital, NHG Health 2 0 1 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 1 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 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
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
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 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
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 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
Dasa 0 1 0 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
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 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 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 Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Laboratory of Molecular Research in Cardiology, Dante Pazzanese Institute of Cardiology 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 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
Phosphorus, Inc. 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 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 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 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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