ClinVar Miner

Variants in gene CHD2

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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 not provided total
119 66 334 362 101 3 910

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy 94 77 36 258 169 43 2 574
not provided 35 21 74 93 62 0 281
not specified 0 0 13 145 31 0 183
History of neurodevelopmental disorder 2 1 10 43 14 0 70
Inborn genetic diseases 7 4 4 0 0 0 15
Intellectual disability 4 7 1 3 0 0 15
Complex neurodevelopmental disorder 3 2 0 0 0 0 5
Rolandic epilepsy 4 0 0 0 0 0 4
See cases 1 0 1 0 0 0 2
Seizures 0 0 2 0 0 0 2
Autistic behavior; Seizures 1 0 0 0 0 0 1
CHD2-Related Disorder 0 0 0 0 0 1 1
Growth delay; Hypoplasia of the corpus callosum; Abnormal facial shape; Abnormality of the pinna; Microcephaly; Sparse and thin eyebrow; Abnormality of the optic nerve; Sparse scalp hair; Downturned corners of mouth; CNS hypomyelination; Postnatal microcephaly 0 0 0 1 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Seizures; 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: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 60 14 232 200 46 0 552
GeneDx 29 14 53 178 73 0 347
Ambry Genetics 9 5 13 43 14 0 84
CeGaT Praxis fuer Humangenetik Tuebingen 1 4 19 4 0 0 28
Athena Diagnostics Inc 0 0 3 2 16 0 21
PreventionGenetics, PreventionGenetics 0 0 0 2 11 0 13
Institute of Human Genetics, University of Leipzig Medical Center 1 5 5 2 0 0 13
OMIM 10 0 0 0 0 0 10
Diagnostic Laboratory, Strasbourg University Hospital 4 6 0 0 0 0 10
Baylor Genetics 1 1 7 0 0 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 4 2 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 5 2 0 0 7
Mendelics 2 2 2 1 0 0 7
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
Fulgent Genetics,Fulgent Genetics 1 0 4 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 1 0 0 5
GenomeConnect - Simons Searchlight 3 2 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 0 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 0 1 3 0 0 0 4
New York Genome Center 0 2 2 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Cavalleri Lab, Royal College of Surgeons in Ireland 2 1 0 0 0 0 3
Blueprint Genetics 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 0 1

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