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
304 161 436 328 130 95 1215

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 139 19 200 184 92 1 598
Kabuki syndrome 1 117 125 108 31 17 2 380
Kabuki syndrome 65 12 119 105 17 0 314
not specified 0 0 22 91 74 93 230
Inborn genetic diseases 11 0 9 0 0 0 20
Lymphoma 0 2 0 0 0 0 2
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
Multiple myeloma 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: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 65 12 31 176 87 0 371
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
GeneDx 68 9 14 20 6 0 117
ITMI 0 0 0 0 0 93 93
Athena Diagnostics Inc 0 0 16 7 26 0 49
PreventionGenetics,PreventionGenetics 0 0 0 21 24 0 45
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 1 8 10 5 0 27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 4 1 17 0 24
Ambry Genetics 11 0 9 0 0 0 20
Mendelics 7 0 7 5 1 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 9 4 0 0 16
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 10
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 7
Institute of Human Genetics,Klinikum rechts der Isar 4 2 0 0 0 0 6
Baylor Genetics 2 2 1 0 0 0 5
Institute of Human Genetics,University of Goettingen 2 2 1 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 2 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 4
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 1 0 1 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 1 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 3 0 0 0 0 3
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 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
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
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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 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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