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 not provided total
344 138 1560 1033 159 7 3045

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 197 42 1402 949 158 1 2655
Wiedemann-Steiner syndrome 140 81 93 22 0 6 332
Inborn genetic diseases 48 3 97 73 3 0 224
KMT2A-related disorder 4 7 36 64 7 0 118
not specified 0 0 38 18 9 0 64
Intellectual disability 8 2 1 4 0 0 15
See cases 3 2 5 0 0 0 10
Autism spectrum disorder 0 1 2 1 0 0 4
Neurodevelopmental disorder 0 3 1 0 0 0 4
Kabuki syndrome 1 2 0 0 0 0 0 2
Microcephaly 1 1 0 0 0 0 2
Rare genetic intellectual disability 1 1 0 0 0 0 2
Atypical behavior; Bilateral ptosis; Neurodevelopmental delay 0 0 1 0 0 0 1
Cornelia de Lange syndrome 1 1 0 0 0 0 0 1
Developmental disorder 0 0 0 1 0 0 1
Hirsutism; Intellectual disability 1 0 0 0 0 0 1
Language disorder 0 0 0 1 0 0 1
Rubinstein Taybi like syndrome 0 1 0 0 0 0 1
intellectual deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 116
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 88 10 1220 843 101 0 2262
GeneDx 97 15 192 85 96 0 485
Ambry Genetics 48 3 97 73 3 0 224
CeGaT Center for Human Genetics Tuebingen 13 10 47 88 9 0 167
PreventionGenetics, part of Exact Sciences 4 7 36 64 10 0 121
Breakthrough Genomics, Breakthrough Genomics 0 0 1 20 23 0 44
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 33 7 0 0 41
3billion 14 11 1 4 0 0 30
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 2 12 1 0 0 27
Genetic Services Laboratory, University of Chicago 7 3 3 7 6 0 26
Baylor Genetics 8 3 14 0 0 0 25
Fulgent Genetics, Fulgent Genetics 1 0 4 15 0 0 20
Mendelics 13 4 1 1 0 0 19
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 10 1 1 5 0 0 17
New York Genome Center 1 2 12 0 0 0 15
Revvity Omics, Revvity 2 4 8 0 0 0 14
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 0 9 0 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 0 0 0 0 0 11
Illumina Laboratory Services, Illumina 4 2 4 0 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 2 6 1 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 4 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 3 4 0 0 0 9
OMIM 8 0 0 0 0 0 8
Diagnostic Laboratory, Strasbourg University Hospital 5 2 1 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 4 2 2 0 0 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 3 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 3 0 0 0 0 7
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 1 2 2 0 0 7
Clinical Genetics and Genomics, Karolinska University Hospital 6 0 0 0 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 3 1 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 1 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 0 0 6
Genomic Medicine Lab, University of California San Francisco 6 0 0 0 0 0 6
MGZ Medical Genetics Center 1 2 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 1 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 2 2 1 0 0 0 5
Molecular Genetics Laboratory, Motol Hospital 4 1 0 0 0 0 5
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 3 2 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 2 0 1 0 4
Eurofins Ntd Llc (ga) 0 1 0 3 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 2 2 0 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 3 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 2 1 1 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 0 0 4 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 4 0 0 0 4
Laboratoire Génétique Moléculaire, CHRU TOURS 4 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
MVZ Medizinische Genetik Mainz 0 2 2 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 1 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 1 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 2 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 1 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 1 1 1 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 1 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 1 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 1 1 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 2 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 2
DASA 2 0 0 0 0 0 2
Center of Human Genetics, Hôpital Erasme 0 2 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 0 0 1 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 1

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