ClinVar Miner

Variants in gene EHMT1

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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
129 57 640 1064 345 16 1978

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Kleefstra syndrome 1 71 39 431 882 240 16 1633
not provided 51 10 190 181 141 0 532
Inborn genetic diseases 10 3 47 113 34 0 207
not specified 2 0 26 39 35 0 87
EHMT1-related condition 1 1 17 38 8 0 65
See cases 4 1 3 3 0 0 11
Intellectual disability 3 0 2 4 0 0 9
Neurodevelopmental disorder 0 0 3 0 0 0 3
Marfanoid habitus and intellectual disability 0 2 0 0 0 0 2
Autism 0 0 1 0 0 0 1
Global developmental delay; Abnormal facial shape; Polymicrogyria; Difficulty walking 1 0 0 0 0 0 1
Kleefstra syndrome 0 1 0 0 0 0 1
Kleefstra syndrome 1; Autism spectrum disorder 1 0 0 0 0 0 1
Schizophrenia; Global developmental delay; Coarse facial features; Anteverted nares; Synophrys; Intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 11 385 876 240 0 1543
GeneDx 41 4 115 131 138 0 429
Ambry Genetics 10 3 47 113 34 0 207
CeGaT Center for Human Genetics Tuebingen 4 2 20 53 7 0 86
Eurofins Ntd Llc (ga) 1 0 50 2 30 0 83
PreventionGenetics, part of Exact Sciences 1 1 17 38 14 0 71
Genetic Services Laboratory, University of Chicago 0 1 20 38 6 0 65
Revvity Omics, Revvity 0 0 20 4 0 0 24
GeneReviews 0 0 0 0 0 16 16
Fulgent Genetics, Fulgent Genetics 0 0 10 4 1 0 15
Baylor Genetics 5 2 5 0 0 0 12
Mendelics 6 1 1 2 1 0 11
Institute of Human Genetics, University of Leipzig Medical Center 4 2 3 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 3 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 7 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 2 2 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 5 0 0 0 7
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 5 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 5 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 2 0 0 0 6
ISCA Site 6 2 1 0 3 0 0 6
New York Genome Center 0 0 5 1 0 0 6
Illumina Laboratory Services, Illumina 0 0 2 3 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 2 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 4 0 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 1 0 0 0 5
OMIM 4 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 3 0 1 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 3 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 2 0 0 4
Laboratory of Medical Genetics, University of Torino 4 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 1 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 3
ISCA site 1 2 0 1 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 1 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
3billion 3 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 1 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 1 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 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
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1

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