ClinVar Miner

Variants in gene KMT2B

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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
90 66 1112 1120 462 64 2590

Condition and significance breakdown #

Total conditions: 50
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 54 23 838 1031 458 4 2252
Inborn genetic diseases 11 2 264 130 0 0 407
Dystonia 28, childhood-onset 26 30 48 7 7 4 115
KMT2B-related disorder 0 4 25 32 16 1 78
not specified 0 0 28 15 2 0 45
Intellectual developmental disorder, autosomal dominant 68 5 3 15 0 1 0 24
Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 2 2 7 4 0 0 15
Intellectual disability 1 0 0 10 0 0 11
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Melanoma 0 0 0 0 0 7 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Malignant tumor of urinary bladder 0 0 0 0 0 6 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 4 4
See cases 0 1 2 0 1 0 4
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 3 3
Complex neurodevelopmental disorder with motor features 2 0 1 0 0 0 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Adrenocortical carcinoma, hereditary 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Dystonic disorder 1 1 0 0 0 0 2
Familial cancer of breast 0 0 0 0 0 2 2
Lymphoma 0 0 0 0 0 2 2
Neoplasm 0 2 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Autism 0 1 0 0 0 0 1
Autism spectrum disorder 0 0 1 0 0 0 1
Castleman-Kojima disease 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Dysarthria; Generalized dystonia 1 0 0 0 0 0 1
Dysarthria; Poor motor coordination; Generalized dystonia 0 1 0 0 0 0 1
Dystonia, early-onset, and/or spastic paraplegia 0 0 1 0 0 0 1
Dystonic disorder; Abnormality of metabolism/homeostasis; Dysarthria; Specific learning disability; Myoclonus 1 0 0 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 5 0 0 1 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Global developmental delay 1 0 0 0 0 0 1
Kabuki syndrome 1 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Paediatric disorders 1 0 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 98
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 38 7 438 892 412 0 1787
GeneDx 15 9 305 40 85 0 454
Ambry Genetics 11 2 264 130 0 0 407
CeGaT Center for Human Genetics Tuebingen 4 7 115 166 6 0 298
PreventionGenetics, part of Exact Sciences 0 1 25 32 16 0 74
Breakthrough Genomics, Breakthrough Genomics 0 0 2 21 38 0 61
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 59 59
Revvity Omics, Revvity 2 1 28 1 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 26 5 1 0 32
3billion 3 7 7 1 0 0 18
Institute of Human Genetics Munich, TUM University Hospital 8 5 0 0 0 0 13
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 10 0 0 11
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 9 1 0 11
SIB Swiss Institute of Bioinformatics 0 4 7 0 0 0 11
Baylor Genetics 0 0 10 0 0 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 9 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 3 0 0 9
OMIM 8 0 0 0 0 0 8
New York Genome Center 0 1 6 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 5 1 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 6 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 2 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 1 4 0 0 5
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 4 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 2 0 0 0 4
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 4 4
NIHR Bioresource Rare Diseases, University of Cambridge 3 1 0 0 0 0 4
Undiagnosed Diseases Network, NIH 3 1 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
GeneReviews 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 1 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Center for Human Genetics, University Hospitals Case Medical Center/Case Western Reserve University 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Dasa 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Neurodegenerative Diseases, AG Gasser, Hertie Institute for Clinical Brain Research 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 0 1 0 0 0 1

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