ClinVar Miner

Variants in gene KMT2C

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Minimum submission review status: Collection method:
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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
97 78 975 792 326 90 2090

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 23 17 497 670 306 4 1452
Inborn genetic diseases 6 2 231 84 2 0 325
Kleefstra syndrome 2 27 30 179 17 4 3 253
not specified 0 0 61 21 13 82 172
KMT2C-related disorder 1 4 42 66 22 0 135
KMT2C-related NDD 46 18 3 0 13 0 80
Intellectual disability 1 0 2 8 0 0 11
Autism spectrum disorder 1 0 1 5 0 0 7
See cases 0 0 6 1 0 0 7
Tip-toe gait 1 5 1 0 0 0 7
Microcephaly 0 0 3 0 0 0 3
Neurodevelopmental disorder 1 0 1 1 0 0 3
Syndromic intellectual disability 0 0 1 0 1 1 3
Multiple myeloma 0 2 0 0 0 0 2
Neurodevelopmental delay 1 1 0 0 0 0 2
Autism, susceptiblity to 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy 92 0 0 1 0 0 0 1
Global developmental delay; Cerebellar atrophy; Kleefstra syndrome 2 0 0 1 0 0 0 1
Kleefstra syndrome 1 0 0 0 0 0 1
Kleefstra syndrome 1 1 0 0 0 0 0 1
Kleefstra syndrome due to a point mutation 1 0 0 0 0 0 1
Neurodevelopmental abnormality 1 0 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 1
atypical cerebral palsy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 98
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 1 181 545 295 0 1024
Ambry Genetics 6 2 231 84 2 0 325
GeneDx 13 13 243 1 3 0 273
CeGaT Center for Human Genetics Tuebingen 5 0 61 169 25 0 260
PreventionGenetics, part of Exact Sciences 0 4 39 66 22 0 131
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 57 20 1 0 82
ITMI 0 0 0 0 0 82 82
Laboratory of Genetics, Children's Clinical University Hospital Latvia 46 18 3 0 13 0 80
Breakthrough Genomics, Breakthrough Genomics 0 0 5 13 58 0 76
Revvity Omics, Revvity 0 2 59 0 0 0 61
New York Genome Center 0 0 26 0 0 0 26
Baylor Genetics 2 3 11 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 11 1 0 0 16
Fulgent Genetics, Fulgent Genetics 0 1 7 8 0 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 6 4 0 14
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 8 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 1 2 7 0 0 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 6 0 0 0 9
3billion 0 4 2 3 0 0 9
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 1 5 0 0 8
Mendelics 1 0 3 0 3 0 7
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 1 5 1 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 1 6 0 0 0 7
MGZ Medical Genetics Center 1 1 4 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 1 0 0 6
OMIM 5 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 1 3 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 3 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 3 0 0 0 4
Illumina Laboratory Services, Illumina 0 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 4 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 1 1 0 0 4
Institute of Human Genetics, University Hospital Muenster 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 1 0 3
MVZ Medizinische Genetik Mainz 0 2 1 0 0 0 3
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 3 0 0 0 3
Bionano Laboratories 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 1 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Applied Translational Genetics Group, University of Auckland 1 0 0 0 0 0 1
TIDEX, University of British Columbia 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 1
Qatar Biomedical Research Institute, Hamad Bin Khalifa University 1 0 0 0 0 0 1
Genetics Laboratory, The Affiliated Women's and Children's Hospital of Qingdao University 1 0 0 0 0 0 1

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