ClinVar Miner

Variants studied for Kabuki syndrome 1

Included ClinVar conditions (5):
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
604 291 2128 2267 1409 8 6229

Gene and significance breakdown #

Total genes and gene combinations: 16
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KMT2D 579 282 2043 2176 1343 8 5974
KMT2D, LOC126861520 18 6 74 89 63 0 229
KDM6A 3 1 5 2 1 0 12
KMT2A 2 0 0 0 0 0 2
ADCY6, ARF3, CACNB3, CCDC65, DDN, DDX23, FKBP11, KMT2D, PRKAG1, RND1, WNT1, WNT10B 0 0 1 0 0 0 1
ADCY6, ARF3, CACNB3, CCNT1, DDN, DDX23, DRC2, FKBP11, KANSL2, KMT2D, PRKAG1, RHEBL1, RND1, WNT1, WNT10B 1 0 0 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
DNMT3B 0 0 1 0 0 0 1
HCFC1 0 0 1 0 0 0 1
KDM5C 0 1 0 0 0 0 1
KIDINS220 0 1 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: 144
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 274 45 1471 2168 1398 0 5356
Fulgent Genetics, Fulgent Genetics 4 6 497 66 5 0 578
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
3billion 26 19 18 0 0 0 63
Baylor Genetics 20 4 36 0 0 0 60
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 3 11 5 0 0 46
New York Genome Center 0 0 32 0 0 0 32
Mendelics 9 2 6 5 3 0 25
Daryl Scott Lab, Baylor College of Medicine 20 1 3 0 0 0 24
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 18 4 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 3 12 0 22
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
Bodamer Research Lab, Boston Children's Hospital 17 0 0 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 5 3 5 3 1 0 17
Neuberg Centre For Genomic Medicine, NCGM 2 3 12 0 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 2 4 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 5 2 1 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 9 0 0 0 13
Shaikh Laboratory, University of Colorado 0 12 0 0 0 0 12
Variantyx, Inc. 8 3 0 0 0 0 11
Institute of Human Genetics Munich, TUM University Hospital 7 3 0 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 5 4 1 0 0 0 10
Illumina Laboratory Services, Illumina 4 0 5 0 0 0 9
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 3 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 7 0 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 4 0 0 0 7
MGZ Medical Genetics Center 2 1 4 0 0 0 7
MVZ Medizinische Genetik Mainz 2 2 3 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 1 0 0 0 0 7
CENTOGENE GmbH and LLC - Guiding Precision Medicine 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
Genomics, Genetics and Epigenetics Laboratory, Medical College of Wisconsin 2 1 2 1 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 0 3 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 1 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 3 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 2 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 4 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 1 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 1 0 0 0 0 5
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 2 2 0 0 0 5
MVZ Martinsried, Medicover Genetics 2 3 0 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
OMIM 5 0 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 0 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 3 1 0 0 0 0 4
Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children’s Hospital 2 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 0 0 4
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 1 0 1 0 0 4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 3
Centre for Medical Genetics, Mumbai 0 0 0 3 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Gharavi Laboratory, Columbia University 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 3 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 3 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 0 2 0 0 0 3
Institute of Medical Genetics, Medical University of Vienna 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 2 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 2 1 0 0 0 0 3
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 2 1 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 2 0 0 0 3
Breda Genetics srl, Breda Genetics srl 1 1 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 2 0 0 0 0 2
Center of Human Genetics, Hôpital Erasme 2 0 0 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 1 0 2
Department of Medical Genetics, Oslo University Hospital 0 0 2 0 0 0 2
Division of Translational Medicine and Human Genetics, University of Pennsylvania 1 0 1 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 1 0 0 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 2 0 0 0 0 0 2
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 1 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 0 2 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Tumer Group, Copenhagen University Hospital, Rigshospitalet 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
Wangler Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Bjornsson Lab, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
DeNA Laboratory, DeNA Laboratory 0 1 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Department of Neonatology, Xingtai People's Hospital 1 0 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 0 1 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 1
Eurofins-Biomnis 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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 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
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 1 0 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 0 1 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 1 0 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 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
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Synevo Romania 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.