ClinVar Miner

Variants in gene KMT2C

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Minimum submission review status: Collection method:
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Gene type:

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
120 115 1283 894 345 209 2616

Condition and significance breakdown #

Total conditions: 58
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 29 20 605 737 325 4 1645
Inborn genetic diseases 9 2 394 126 2 0 533
Kleefstra syndrome 2 39 40 212 20 4 3 309
not specified 3 0 96 47 16 82 235
KMT2C-related disorder 1 4 42 66 22 0 135
KMT2C-related NDD 46 18 3 0 13 0 80
Neoplasm 0 20 0 0 0 0 20
Cervical cancer 0 0 0 0 0 17 17
Gastric cancer 0 0 0 0 0 17 17
Acute myeloid leukemia 0 0 0 0 0 16 16
Familial cancer of breast 0 0 0 0 0 15 15
Intellectual disability 1 0 4 9 0 0 14
Ovarian serous cystadenocarcinoma 0 0 0 0 0 14 14
Malignant tumor of esophagus 0 0 0 0 0 13 13
Hepatocellular carcinoma 0 0 0 0 0 11 11
Sarcoma 0 0 0 0 0 10 10
Thymoma 0 0 0 0 0 10 10
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 9 9
Autism spectrum disorder 1 0 1 5 0 0 7
Cholangiocarcinoma 0 0 0 0 0 7 7
Clear cell carcinoma of kidney 0 0 0 0 0 7 7
Lung cancer 0 0 0 0 0 7 7
See cases 0 0 6 1 0 0 7
Tip-toe gait 1 5 1 0 0 0 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Nonpapillary renal cell carcinoma 0 0 0 0 0 6 6
Melanoma 0 0 0 0 0 5 5
Colon adenocarcinoma 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Medulloblastoma non-WNT/non-SHH group 4 3 0 0 0 0 0 3
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
Colorectal cancer 0 0 0 0 0 2 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Glioma susceptibility 1 0 0 0 0 0 2 2
Multiple myeloma 0 2 0 0 0 0 2
Neurodevelopmental delay 1 1 0 0 0 0 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Autism, susceptiblity to 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy 92 0 0 1 0 0 0 1
Dystonia, early-onset, and/or spastic paraplegia 0 0 0 0 1 0 1
Familial prostate cancer 0 0 0 0 0 1 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
Lymphoma 0 0 0 0 0 1 1
Medulloblastoma SHH activated 0 1 0 0 0 0 1
Medulloblastoma WNT activated 0 1 0 0 0 0 1
Medulloblastoma non-WNT/non-SHH group 3 0 1 0 0 0 0 1
Neurodevelopmental abnormality 1 0 0 0 0 0 1
Posterior fossa ependymoma 0 1 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
atypical cerebral palsy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 113
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 2 205 587 314 0 1111
Ambry Genetics 9 2 394 126 2 0 533
GeneDx 16 15 310 1 3 0 345
CeGaT Center for Human Genetics Tuebingen 7 0 78 206 25 0 316
PreventionGenetics, part of Exact Sciences 0 4 39 66 22 0 131
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 90 34 1 0 130
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 126 126
Laboratory of Genetics, Children's Clinical University Hospital Latvia 46 18 4 12 16 0 96
ITMI 0 0 0 0 0 82 82
Breakthrough Genomics, Breakthrough Genomics 0 0 5 13 58 0 76
Revvity Omics, Revvity 0 3 71 0 0 0 74
New York Genome Center 0 0 26 0 0 0 26
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 20 0 0 0 0 20
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 17 1 0 0 19
Baylor Genetics 2 3 11 0 0 0 16
Fulgent Genetics, Fulgent Genetics 0 1 7 8 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 11 1 0 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 6 4 0 14
3billion 0 5 5 3 0 0 13
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 8 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 7 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 1 2 8 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 7 1 0 0 10
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 1 1 5 0 0 9
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 4 0 0 0 0 7
Mendelics 1 0 3 0 3 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 1 6 0 0 0 7
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 1 5 1 0 0 0 7
MGZ Medical Genetics Center 1 1 4 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 1 3 0 5
OMIM 5 0 0 0 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 3 0 1 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 1 1 0 4
Centre of Medical Genetics, University Hospital Muenster 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 3 0 4
Illumina Laboratory Services, Illumina 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
Centre for Medical Genetics, Mumbai 0 0 0 3 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Department of Human Genetics, Hannover Medical School 1 0 2 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 0 3
MVZ Medizinische Genetik Mainz 0 2 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 1 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 3
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 3 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 3
Bionano Laboratories 0 0 2 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 1 0 2
MVZ Martinsried, Medicover Genetics 1 0 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 1 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 2 0 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 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
Undiagnosed Diseases Network, NIH 1 1 1 0 0 0 2
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 2 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Genetics Laboratory, The Affiliated Women's and Children's Hospital of Qingdao University 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics, Genetics and Epigenetics Laboratory, Medical College of Wisconsin 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 1 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 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
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 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
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
TIDEX, University of British Columbia 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1

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