ClinVar Miner

Variants in gene KMT2E

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Gene type:
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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 total
77 69 627 352 115 1170

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 35 12 432 324 114 906
Inborn genetic diseases 11 2 134 27 0 174
O'Donnell-Luria-Rodan syndrome 35 36 62 1 0 127
KMT2E-related disorder 1 2 26 29 9 67
See cases 1 16 19 0 0 36
not specified 0 0 9 1 1 11
Neurodevelopmental disorder 1 2 1 0 0 4
Neurodevelopmental delay 1 1 0 0 0 2
Abnormal cerebellar vermis morphology 0 0 1 0 0 1
Autism spectrum disorder 0 0 0 1 0 1
Complex neurodevelopmental disorder 0 0 1 0 0 1
Epilepsy 0 0 1 0 0 1
Global developmental delay 0 1 0 0 0 1
Intellectual disability 0 1 0 0 0 1
Intellectual disability, autosomal dominant 40 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 22 2 317 313 114 768
Ambry Genetics 11 2 134 27 0 174
GeneDx 10 4 106 1 3 124
PreventionGenetics, part of Exact Sciences 1 2 26 29 9 67
CeGaT Center for Human Genetics Tuebingen 4 3 13 25 2 47
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 15 17 0 0 32
Institute of Human Genetics, Cologne University 6 10 0 0 0 15
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 9 0 0 12
Revvity Omics, Revvity 0 0 12 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 8 1 0 12
Neuberg Centre For Genomic Medicine, NCGM 0 1 11 0 0 12
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 7 10
Baylor Genetics 0 2 7 0 0 9
OMIM 8 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 1 0 6
New York Genome Center 0 0 6 0 0 6
Translational Cytogenomics Research Unit, Bambino Gesu Children Hospital 6 0 0 0 0 6
Mendelics 0 2 1 0 1 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 1 0 0 4
MGZ Medical Genetics Center 1 1 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 1 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 0 2 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 0 2
Eurofins Ntd Llc (ga) 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 1 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1 0 2
Molecular Genetics laboratory, Necker Hospital 0 2 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 1
Department of Rehabilitation, Children's Hospital of Nanjing Medical University 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 1

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