ClinVar Miner

Variants studied for Kabuki syndrome 1

Included ClinVar conditions (5):
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
502 236 1236 1688 1135 5 4585

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KMT2D 480 231 1187 1625 1083 5 4400
KMT2D, LOC126861520 17 4 40 61 49 0 165
KDM6A 2 1 5 2 1 0 11
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
ALG1 0 0 0 0 1 0 1
ATP5MF-PTCD1, PTCD1 0 0 0 0 1 0 1
DNMT3B 0 0 1 0 0 0 1
HCFC1 0 0 1 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: 109
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 233 39 993 1637 1125 0 4027
Center for Human Genetics, Inc, Center for Human Genetics, Inc 16 94 40 23 1 0 174
Autoinflammatory diseases unit, CHU de Montpellier 96 19 0 0 0 0 115
Genetic Services Laboratory, University of Chicago 50 5 28 0 0 0 83
Fulgent Genetics, Fulgent Genetics 4 0 29 20 4 0 57
Baylor Genetics 17 4 33 0 0 0 54
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 4 19 0 30
New York Genome Center 0 0 29 0 0 0 29
3billion 15 9 5 0 0 0 29
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 2 9 4 0 0 28
Mendelics 9 2 5 5 3 0 24
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 18 4 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
Bodamer Research Lab, Boston Children's Hospital 17 0 0 0 0 0 17
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 5 2 1 0 13
Daryl Scott Lab, Baylor College of Medicine 9 1 3 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 2 2 5 3 1 0 13
Shaikh Laboratory, University of Colorado 0 12 0 0 0 0 12
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 3 0 0 0 0 10
Institute of Human Genetics, University of Goettingen 4 3 2 0 0 0 9
MGZ Medical Genetics Center 2 1 4 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 4 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 3 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 1 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 7 0 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 5 0 0 0 7
Human Developmental Genetics Laboratory, Medical College of Wisconsin 2 1 2 1 0 0 6
Centogene AG - the Rare Disease Company 1 1 4 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 1 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 3 0 3 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 3 0 0 0 6
OMIM 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 1 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 2 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 1 0 0 0 0 4
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 1 0 1 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 0 0 4
Clinical Genomics Program, Stanford Medicine 3 1 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 2 0 0 0 4
Institute of Human Genetics, Cologne University 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 0 0 2 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Wangler Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Laboratory of Medical Genetics, University of Torino 2 0 0 0 0 0 2
Breda Genetics srl 1 1 0 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
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 0 1 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
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 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
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
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 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
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
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 0 0 0 0 1 0 1
DeNA Laboratory, DeNA Laboratory 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 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
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
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 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

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