ClinVar Miner

Variants in gene CHD2

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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
234 111 772 871 190 7 2018

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy 94 177 75 619 685 81 4 1610
not provided 60 22 168 181 138 0 546
Inborn genetic diseases 15 7 43 85 19 0 169
not specified 1 0 18 83 31 0 129
Intellectual disability 4 6 1 3 0 0 14
CHD2-related condition 1 3 6 0 0 0 10
Autism spectrum disorder 1 1 0 2 0 0 4
Childhood epilepsy with centrotemporal spikes 4 0 0 0 0 0 4
Complex neurodevelopmental disorder 2 2 0 0 0 0 4
Seizure 0 1 3 0 0 0 4
CHD2-Related Disorder 0 0 0 0 0 2 2
Neurodevelopmental disorder 1 1 0 0 0 0 2
Autistic behavior; Seizure 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 0 0 0 0 1 1
Growth delay; Hypoplasia of the corpus callosum; Abnormal facial shape; Abnormal pinna morphology; Microcephaly; Sparse and thin eyebrow; Abnormal optic nerve morphology; Sparse scalp hair; Downturned corners of mouth; CNS hypomyelination; Secondary microcephaly 0 0 0 1 0 0 1
History of neurodevelopmental disorder 1 0 0 0 0 0 1
Lennox-Gastaut syndrome 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Myoclonic-astatic epilepsy 1 0 0 0 0 0 1
Neurodevelopmental delay 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Seizure; Intellectual disability 0 1 0 0 0 0 1
Sifrim-Hitz-Weiss syndrome 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 154 34 578 676 75 0 1517
GeneDx 47 14 124 219 148 0 552
Ambry Genetics 16 7 43 85 19 0 170
CeGaT Center for Human Genetics Tuebingen 6 4 37 43 8 0 98
Revvity Omics, Revvity Omics 3 0 25 2 0 0 30
Athena Diagnostics Inc 1 0 4 2 17 0 24
Preventiongenetics, part of Exact Sciences 1 3 6 2 11 0 23
Institute of Human Genetics, University of Leipzig Medical Center 3 5 6 4 0 0 18
Mendelics 4 2 6 0 0 0 12
Fulgent Genetics, Fulgent Genetics 2 0 6 4 0 0 12
OMIM 10 0 0 0 0 0 10
Baylor Genetics 1 2 7 0 0 0 10
Diagnostic Laboratory, Strasbourg University Hospital 4 6 0 0 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 10
Genetic Services Laboratory, University of Chicago 0 0 5 2 2 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 5 1 0 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 1 3 0 0 7
New York Genome Center 0 3 4 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 3 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 2 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 2 0 2 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 2 1 0 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 2 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 1 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 1 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 4 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 1 0 4
GenomeConnect - Simons Searchlight 2 2 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 2 1 0 0 0 0 3
3billion 0 3 0 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Blueprint Genetics 0 2 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 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
Department of Laboratory Medicine, Yonsei University College of Medicine 0 2 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
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 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 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 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1

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