ClinVar Miner

Variants studied for Kabuki syndrome

Included ClinVar conditions (6):
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
598 287 1498 1932 1217 5 5305

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KMT2D 504 244 1202 1632 1083 5 4452
KDM6A 71 37 245 225 80 0 650
KMT2D, LOC126861520 17 4 41 61 49 0 166
KDM6A, LOC130068183 0 0 4 12 2 0 18
KDM6A, LOC130068184 0 0 0 2 1 0 3
KMT2A 2 0 0 0 0 0 2
ADCY6, ARF3, CACNB3, CCDC65, CCNT1, DDN, DDX23, FKBP11, KANSL2, KMT2D, PRKAG1, RHEBL1, RND1, WNT1, WNT10B 1 0 0 0 0 0 1
ADCY6, ARF3, CACNB3, CCDC65, DDN, DDX23, FKBP11, KMT2D, PRKAG1, RND1, WNT1, WNT10B 0 0 1 0 0 0 1
ALG1 0 0 0 0 1 0 1
ARF3, CCDC65, DDN, DHH, FKBP11, KMT2D, PRKAG1, RHEBL1, WNT1, WNT10B 0 0 1 0 0 0 1
ATP5MF-PTCD1, PTCD1 0 0 0 0 1 0 1
BRCA2 1 0 0 0 0 0 1
CHST7, DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, KRBOX4, MAOA, MAOB, MIR221, MIR222, NDP, RP2, SLC9A7, ZNF674 0 1 0 0 0 0 1
DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 0 1 0 0 0 0 1
DNMT3B 0 0 1 0 0 0 1
DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 1 0 0 0 0 0 1
HCFC1 0 0 1 0 0 0 1
KDM6A, LOC130068187 1 0 0 0 0 0 1
KMT2B 0 0 1 0 0 0 1
ZBTB24 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 125
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 266 50 1213 1872 1208 0 4609
Center for Human Genetics, Inc, Center for Human Genetics, Inc 16 94 40 23 1 0 174
Autoinflammatory diseases unit, CHU de Montpellier 106 22 0 0 0 0 128
Genetic Services Laboratory, University of Chicago 51 7 29 0 0 0 87
Baylor Genetics 20 4 43 0 0 0 67
Fulgent Genetics, Fulgent Genetics 4 0 29 20 4 0 57
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 24 3 17 5 0 0 49
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 7 20 0 34
New York Genome Center 0 0 31 0 0 0 31
3billion 16 10 5 0 0 0 31
Mendelics 9 2 5 5 3 0 24
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 19 4 0 0 24
Bodamer Research Lab, Boston Children's Hospital 23 0 0 0 0 0 23
Illumina Laboratory Services, Illumina 4 0 13 2 0 0 19
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 6 6 7 0 0 0 19
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 10 2 0 6 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 2 3 12 0 0 0 17
Shaikh Laboratory, University of Colorado 0 16 0 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 3 3 6 3 1 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 6 2 1 0 14
Daryl Scott Lab, Baylor College of Medicine 10 1 3 0 0 0 14
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 8 4 0 0 0 0 12
OMIM 11 0 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 9 1 0 0 0 0 10
Institute of Human Genetics, University of Goettingen 4 3 2 0 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 5 0 0 0 0 9
MGZ Medical Genetics Center 2 2 4 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 6 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 4 0 0 0 8
Revvity Omics, Revvity 1 2 4 0 0 0 7
Human Developmental Genetics Laboratory, Medical College of Wisconsin 2 2 2 1 0 0 7
Centogene AG - the Rare Disease Company 2 1 4 0 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 4 1 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 2 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 3 0 4 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 1 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 7 0 0 0 0 0 7
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 4 0 3 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 4 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 2 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 1 0 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 1 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 1 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 2 0 5
MVZ Medizinische Genetik Mainz 2 1 2 0 0 0 5
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 1 0 1 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 3 1 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Institute of Human Genetics, Cologne University 3 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory of Medical Genetics, University of Torino 2 1 0 0 0 0 3
Breda Genetics srl 2 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 1 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 2 0 0 0 3
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 0 0 0 0 0 3
Institute of Medical Genetics, Medical University of Vienna 3 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 0 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 1 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 1 0 0 0 0 2
Wangler Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 1 0 2
DeNA Laboratory, DeNA Laboratory 0 1 1 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 1 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 2 0 0 0 0 2
Division of Translational Medicine and Human Genetics, University of Pennsylvania 1 0 1 0 0 0 2
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 1 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Bjornsson Lab, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Department of Neonatology, Xingtai People's Hospital 1 0 0 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1

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