ClinVar Miner

Variants in gene KMT2D

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
453 214 481 335 139 96 1489

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Kabuki syndrome 1 221 159 158 39 25 3 574
not provided 151 24 215 144 44 1 556
Kabuki syndrome 120 21 105 118 72 0 434
not specified 0 0 20 90 78 93 230
Inborn genetic diseases 19 2 11 0 0 0 32
Intellectual disability 2 0 3 12 0 0 17
Microcephaly 1 0 2 0 0 0 3
Lymphoma 0 2 0 0 0 0 2
Seizures; Intellectual disability 0 0 2 0 0 0 2
Astrocytoma 0 0 1 0 0 0 1
CHARGE association 0 1 0 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
Congenital anomalies of kidney and urinary tract 0 0 1 0 0 0 1
Dandy-Walker syndrome; Kabuki syndrome 1 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 26 0 1 0 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 1
Rubinstein taybi like syndrome 0 1 0 0 0 0 1
See cases 0 0 1 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: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 120 21 98 214 94 0 547
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 68 4 157 24 66 0 319
Center for Human Genetics, Inc,Center for Human Genetics, Inc 16 93 38 23 1 0 171
Genetic Services Laboratory, University of Chicago 50 5 40 33 39 0 167
GeneDx 68 9 14 20 6 0 117
Autoinflammatory diseases unit,CHU de Montpellier 96 19 0 0 0 0 115
ITMI 0 0 0 0 0 93 93
Athena Diagnostics Inc 0 0 17 8 28 0 53
PreventionGenetics, PreventionGenetics 0 0 0 21 24 0 45
CeGaT Praxis fuer Humangenetik Tuebingen 7 6 19 10 0 0 42
Baylor Genetics 10 2 27 0 0 0 39
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 6 6 22 0 36
Ambry Genetics 19 2 11 0 0 0 32
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 1 8 10 5 0 27
Mendelics 7 0 7 5 1 0 20
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 3 0 12 0 0 18
Illumina Clinical Services Laboratory,Illumina 0 0 13 2 0 0 15
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 3 7 2 1 0 15
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 4 6 3 0 0 0 13
Fulgent Genetics,Fulgent Genetics 3 0 9 0 0 0 12
Shaikh Laboratory, University of Colorado 0 12 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 2 2 4 3 1 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 12
Institute of Human Genetics, Klinikum rechts der Isar 5 3 0 0 0 0 8
New York Genome Center 0 0 8 0 0 0 8
Clinical Genetics laboratory, University of Goettingen 3 3 1 0 0 0 7
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 6 0 0 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 1 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 2 0 0 0 5
Daryl Scott Lab,Baylor College of Medicine 4 1 0 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 2 0 0 0 0 5
OMIM 4 0 0 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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 3 1 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 0 0 0 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 2 0 2 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 2 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 3 0 0 0 0 3
Clinical Genomics Program, Stanford Medicine 2 1 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 0 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 2 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 1 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Breda Genetics srl 1 1 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
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 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
Genome Sciences Centre,British Columbia Cancer Agency 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Carola Vinuesa Lab,John Curtin School of Medical Research 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 0 1 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 1 0 0 0 0 0 1
DeNA Laboratory, DeNA Laboratory 0 1 0 0 0 0 1
Department of Neonatology,Xingtai People's Hospital 1 0 0 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 0 1

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