ClinVar Miner

Variants in gene EHMT1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
225 79 850 1220 385 50 2422

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Kleefstra syndrome 1 168 58 523 1009 282 16 1974
not provided 60 16 273 204 141 0 646
Inborn genetic diseases 13 3 126 160 35 0 337
not specified 2 0 43 66 37 0 130
EHMT1-related disorder 1 1 20 47 8 0 77
Intellectual disability 4 0 3 6 0 0 13
See cases 4 1 4 3 0 0 12
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Acute myeloid leukemia 0 0 0 0 0 4 4
Kleefstra syndrome 1 1 2 0 0 0 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
Neurodevelopmental disorder 0 0 3 0 0 0 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Marfanoid habitus and intellectual disability 0 2 0 0 0 0 2
Melanoma 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Autism 0 0 1 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Epilepsy 0 0 1 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Global developmental delay; Abnormal facial shape; Polymicrogyria; Difficulty walking 1 0 0 0 0 0 1
Kleefstra syndrome 1; Autism spectrum disorder 1 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Schizophrenia; Global developmental delay; Coarse facial features; Anteverted nares; Synophrys; Intellectual disability 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 107
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 39 12 446 1002 271 0 1770
GeneDx 46 10 193 131 138 0 518
Ambry Genetics 13 3 126 160 35 0 337
CeGaT Center for Human Genetics Tuebingen 6 2 23 86 10 0 127
Laboratory of Genetics, Children's Clinical University Hospital Latvia 79 0 6 9 12 0 106
Eurofins Ntd Llc (ga) 1 0 50 2 30 0 83
PreventionGenetics, part of Exact Sciences 1 1 20 47 14 0 83
Breakthrough Genomics, Breakthrough Genomics 0 0 1 19 55 0 75
Genetic Services Laboratory, University of Chicago 0 1 20 38 6 0 65
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 24 18 0 0 45
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 34 34
Revvity Omics, Revvity 0 0 20 4 0 0 24
Clinical Genetics Center, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 15 4 3 0 0 0 22
Fulgent Genetics, Fulgent Genetics 0 0 12 4 1 0 17
GeneReviews 0 0 0 0 0 16 16
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 2 12 0 15
Institute of Human Genetics, University of Leipzig Medical Center 6 3 4 0 0 0 13
Mendelics 6 1 3 2 1 0 13
Baylor Genetics 5 2 5 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 8 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 5 0 0 0 12
3billion 6 4 1 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 5 5 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 3 0 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 1 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 2 2 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 4 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 4 0 0 0 0 7
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 5 0 0 0 7
ISCA Site 6 2 1 0 3 0 0 6
New York Genome Center 0 0 6 0 0 0 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 2 2 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 4 1 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 4 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 2 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 1 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 2 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 2 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 3 0 1 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Laboratory of Medical Genetics, University of Torino 4 0 0 0 0 0 4
MVZ Martinsried, Medicover Genetics 0 1 3 0 0 0 4
OMIM 4 0 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
ISCA site 1 2 0 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 1 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 1 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 1 0 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Variantyx, Inc. 2 1 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 1 0 2
Genetics Laboratory, The Affiliated Women's and Children's Hospital of Qingdao University 2 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 1
BioTalentum Ltd. 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratorio de Diagnóstico Molecular 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Medical Genetics Clinic, University of Catania 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Rare Disease Center, Seoul National University Hospital 0 1 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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