ClinVar Miner

Variants in gene KMT2A

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Minimum submission review status: Collection method:
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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 total
173 47 63 88 45 402

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 92 21 27 75 41 252
Wiedemann-Steiner syndrome 55 20 22 2 0 97
Inborn genetic diseases 30 1 7 0 0 38
not specified 0 0 4 8 7 18
Intellectual disability 6 2 2 4 0 14
See cases 2 1 0 0 0 3
Kabuki syndrome 1 2 0 0 0 0 2
Microcephaly 1 1 0 0 0 2
Rare genetic intellectual disability 1 1 0 0 0 2
Autistic disorder of childhood onset; Intellectual disability 1 0 0 0 0 1
Behavioral abnormality; Bilateral ptosis; Neurodevelopmental delay 0 0 1 0 0 1
Cornelia de Lange syndrome 1 1 0 0 0 0 1
Hirsutism; Intellectual disability 1 0 0 0 0 1
Language impairment 0 0 0 1 0 1
Neurodevelopmental disorder 0 1 0 0 0 1
Rubinstein taybi like syndrome 0 1 0 0 0 1
intellectual deficiency 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 2 16 67 40 135
GeneDx 64 11 2 1 0 78
Ambry Genetics 30 1 7 0 0 38
CeGaT Praxis fuer Humangenetik Tuebingen 8 5 8 3 0 24
Genetic Services Laboratory, University of Chicago 5 3 2 4 6 20
Baylor Genetics 5 2 11 0 0 18
Mendelics 8 3 1 1 0 13
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 1 1 5 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 6 1 10
OMIM 8 0 0 0 0 8
Diagnostic Laboratory, Strasbourg University Hospital 5 2 1 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 0 0 0 0 7
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 6 0 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 6 0 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 2 0 1 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 0 3 0 4
UCLA Clinical Genomics Center, UCLA 2 2 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 3 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Service de Génétique Moléculaire,Hôpital Robert Debré 2 1 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 2 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 2
Autoinflammatory diseases unit,CHU de Montpellier 1 1 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 1 0 0 0 2
New York Genome Center 1 0 1 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 0 0 1 0 1

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