ClinVar Miner

Variants studied for Kabuki syndrome 1

Included ClinVar conditions (3):
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
321 181 261 153 86 3 935

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KMT2D 318 180 255 153 84 3 923
KDM6A 0 1 2 0 0 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
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: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 120 21 98 116 72 0 427
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
Baylor Genetics 10 2 27 0 0 0 39
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 5 21 0 32
Mendelics 7 0 7 5 1 0 20
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 6 7 0 0 0 19
Illumina Clinical Services Laboratory,Illumina 0 0 13 2 0 0 15
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 5 2 1 0 13
Fulgent Genetics,Fulgent Genetics 3 0 9 0 0 0 12
Shaikh Laboratory, University of Colorado 0 12 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 2 2 4 3 1 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 12
Institute of Human Genetics, Klinikum rechts der Isar 5 3 0 0 0 0 8
Clinical Genetics laboratory, University of Goettingen 3 3 1 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 3 0 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 6 0 0 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 1 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 2 0 0 0 5
Daryl Scott Lab,Baylor College of Medicine 4 1 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 2 0 4
Institute of Human Genetics,Cologne University 3 0 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 1 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
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
Clinical Genomics Program, Stanford Medicine 2 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Breda Genetics srl 1 1 0 0 0 0 2
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 0 1 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
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 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
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 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 for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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
DeNA Laboratory, DeNA Laboratory 0 1 0 0 0 0 1
Department of Neonatology,Xingtai People's Hospital 1 0 0 0 0 0 1

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