ClinVar Miner

Variants in gene KMT2D

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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 not provided total
255 152 413 188 87 95 1014

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 131 19 193 12 17 1 370
Kabuki syndrome 1 100 123 93 26 2 2 330
Kabuki syndrome 36 8 117 108 32 0 285
not specified 0 0 22 91 74 93 230
Inborn genetic diseases 11 0 9 0 0 0 20
Astrocytoma 0 0 1 0 0 0 1
Cavernous Sinus Meningioma 0 1 0 0 0 0 1
Complement component c1s deficiency 1 0 0 0 0 0 1
Intellectual disability 0 0 0 1 0 0 1
Mental retardation, autosomal dominant 26 0 1 0 0 0 0 1
Seizures; Connective tissue nevi 0 0 1 0 0 0 1
Smith-Magenis Syndrome-like 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 68 4 157 24 66 0 319
Illumina Clinical Services Laboratory,Illumina 0 0 90 101 13 0 204
Center for Human Genetics, Inc 16 93 38 23 1 0 171
Genetic Services Laboratory, University of Chicago 50 4 47 36 30 0 167
Invitae 36 8 28 11 25 0 108
GeneDx 60 9 14 18 6 0 107
ITMI 0 0 0 0 0 93 93
PreventionGenetics 0 0 0 21 24 0 45
Athena Diagnostics Inc 0 0 10 5 19 0 34
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 1 8 10 5 0 27
Ambry Genetics 11 0 9 0 0 0 20
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 4 6 3 0 0 0 13
Fulgent Genetics 3 0 9 0 0 0 12
Shaikh Laboratory, University of Colorado 0 12 0 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 7 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 0 1 6 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 9
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 7
Institute of Human Genetics,University of Goettingen 2 2 1 0 0 0 5
Laboratoire de Cytogenetique,Hospices Civils de Lyon 3 2 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Baylor Genetics 2 1 1 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 4 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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 2 0 3
Institute of Human Genetics,Cologne University 3 0 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 2 0 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
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 0 0 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 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
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 1 0 0 0 1
Carola Vinuesa Lab,John Curtin School of Medical Research 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 1 0 0 0 0 0 1

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