ClinVar Miner

Variants in gene KMT2A

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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 total
93 29 17 17 8 158

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 51 18 7 7 2 84
Wiedemann-Steiner syndrome 28 10 3 1 0 42
Inborn genetic diseases 17 0 3 0 0 20
not specified 0 0 4 8 7 18
Intellectual disability 1 0 0 1 0 2
Kabuki syndrome 1 2 0 0 0 0 2
Behavioral abnormality; Bilateral ptosis; Neurodevelopmental delay 0 0 1 0 0 1
Cornelia de Lange syndrome 1 1 0 0 0 0 1
intellectual deficiency 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 49 11 2 1 0 63
Genetic Services Laboratory, University of Chicago 5 3 2 4 6 20
Ambry Genetics 17 0 3 0 0 20
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 6 1 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 4 1 0 9
OMIM 8 0 0 0 0 8
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 4 1 1 2 0 8
Division of Genomic Diagnostics,The 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
Baylor Miraca Genetics Laboratories, 1 1 1 0 0 3
PreventionGenetics 0 0 0 0 3 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 2 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 0 0 0 0 2
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 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 (Pr. Bezieau's lab),CHU de Nantes 1 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 1

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