ClinVar Miner

Variants in gene KMT2A

See also:
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
379 167 1826 1192 161 52 3521

Condition and significance breakdown #

Total conditions: 39
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 214 45 1609 1066 159 1 2990
Wiedemann-Steiner syndrome 162 104 118 26 0 7 405
Inborn genetic diseases 54 3 171 122 3 0 353
KMT2A-related disorder 4 7 36 64 7 0 118
not specified 0 0 56 33 12 0 99
Intellectual disability 9 4 2 5 1 0 21
Ovarian serous cystadenocarcinoma 0 0 0 0 0 18 18
See cases 3 2 5 0 0 0 10
Melanoma 0 0 0 0 0 7 7
Autism spectrum disorder 0 1 2 1 0 0 4
Neurodevelopmental disorder 0 3 1 0 0 0 4
Gastric cancer 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Kabuki syndrome 1 2 0 0 0 0 0 2
Microcephaly 1 1 0 0 0 0 2
Rare genetic intellectual disability 1 1 0 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Adrenal cortex carcinoma 0 1 0 0 0 0 1
Atypical behavior; Bilateral ptosis; Neurodevelopmental delay 0 0 1 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Cornelia de Lange syndrome 1 1 0 0 0 0 0 1
Developmental disorder 0 0 0 1 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hirsutism; Intellectual disability 1 0 0 0 0 0 1
Language disorder 0 0 0 1 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Medulloblastoma SHH activated 0 1 0 0 0 0 1
Neoplasm 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Rubinstein Taybi like syndrome 0 1 0 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
intellectual deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 136
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 99 9 1412 947 102 0 2569
GeneDx 104 17 215 85 96 0 517
Ambry Genetics 54 3 171 122 3 0 353
CeGaT Center for Human Genetics Tuebingen 14 10 58 109 11 0 202
PreventionGenetics, part of Exact Sciences 4 7 36 64 10 0 121
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 51 19 0 0 71
3billion 17 16 8 4 0 0 45
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 45 45
Breakthrough Genomics, Breakthrough Genomics 0 0 1 20 23 0 44
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 20 3 14 1 0 0 38
Genetic Services Laboratory, University of Chicago 7 3 3 7 6 0 26
Baylor Genetics 8 3 14 0 0 0 25
Revvity Omics, Revvity 2 6 14 0 0 0 22
Fulgent Genetics, Fulgent Genetics 1 0 4 15 0 0 20
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 9 9 0 0 0 20
Mendelics 13 4 1 1 0 0 19
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 10 1 1 5 0 0 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 0 10 0 0 0 15
New York Genome Center 1 2 12 0 0 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 4 1 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 7 2 2 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 0 0 0 0 0 11
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 2 6 1 0 10
Illumina Laboratory Services, Illumina 4 2 4 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 5 3 1 0 0 0 9
Diagnostic Laboratory, Strasbourg University Hospital 5 2 1 0 0 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 3 0 8
OMIM 8 0 0 0 0 0 8
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 1 2 2 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 3 0 0 0 0 7
Laboratoire Génétique Moléculaire, CHRU TOURS 6 0 1 0 0 0 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 2 0 2 3 0 7
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 2 1 1 1 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 0 0 6
Clinical Genetics and Genomics, Karolinska University Hospital 6 0 0 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 1 0 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 3 1 0 0 0 6
Molecular Genetics Laboratory, Motol Hospital 5 1 0 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 2 2 1 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 5
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 3 2 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
MGZ Medical Genetics Center 1 2 2 0 0 0 5
MVZ Martinsried, Medicover Genetics 4 1 0 0 0 0 5
MVZ Medizinische Genetik Mainz 0 3 2 0 0 0 5
Variantyx, Inc. 4 1 0 0 0 0 5
Centre for Medical Genetics, Mumbai 0 0 0 4 0 0 4
Centre of Medical Genetics, University Hospital Muenster 0 0 4 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 2 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 2 1 1 0 0 0 4
Dasa 3 0 1 0 0 0 4
Eurofins Ntd Llc (ga) 0 1 0 3 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 2 0 1 0 4
Institute of Human Genetics Munich, TUM University Hospital 4 0 0 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 3 0 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 1 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
OLLIN Analises Genomicas, OLLIN 1 2 1 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 4 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 2 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 1 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 2 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 1 0 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 2 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 1 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 1 1 1 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 2 1 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 1 1 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Center of Human Genetics, Hôpital Erasme 0 2 0 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 0 1 1 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 1 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 2 0 2
Applied Translational Genetics Group, University of Auckland 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 0 0 0 0 1
Department of Endocrinology, Second Affiliated Hospital, Zhejiang University School of Medicine 1 0 0 0 0 0 1
Department of Human Genetics, SALK University Hospital, Paracelsus Medical University Salzburg 1 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 0 0 1 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 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.