ClinVar Miner

Variants in gene CHD8

See also:
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 risk factor not provided total
105 71 594 418 126 9 3 1206

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 61 26 470 355 123 0 0 974
Inborn genetic diseases 12 2 104 87 21 0 0 226
Intellectual developmental disorder with autism and macrocephaly 35 30 60 5 0 9 1 136
CHD8-related condition 4 3 13 18 10 0 0 48
not specified 0 0 10 4 5 0 0 19
Autism spectrum disorder 7 2 2 3 0 0 0 14
Intellectual disability 4 0 0 5 0 0 0 9
Neurodevelopmental disorder 2 3 1 0 0 0 0 6
See cases 0 0 5 0 0 0 0 5
CHD8-Related Disorders 1 2 0 0 0 0 1 4
Autism; Intellectual disability 0 0 2 0 0 0 0 2
Developmental disorder 0 1 1 0 0 0 0 2
Autism 1 0 0 0 0 0 0 1
Autism spectrum disorder; Intellectual disability 0 0 0 0 0 0 1 1
CHD8-Related Disorder 0 0 0 0 0 0 1 1
CHD8-associated Neurodevelopmental syndrome 0 1 0 0 0 0 0 1
Macrocephaly 1 0 0 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 0 1
Overgrowth; Macrocephaly; Fatigable weakness; Increased muscle fatiguability; Congenital ptosis 0 1 0 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 15 6 274 285 62 0 0 642
GeneDx 32 11 190 79 91 0 0 403
Ambry Genetics 12 2 104 87 21 0 0 226
CeGaT Center for Human Genetics Tuebingen 8 3 14 22 10 0 0 57
PreventionGenetics, part of Exact Sciences 4 3 13 18 10 0 0 48
Eurofins Ntd Llc (ga) 1 1 24 3 4 0 0 33
Revvity Omics, Revvity 1 2 21 0 0 0 0 24
OMIM 4 0 0 0 0 9 0 13
Baylor Genetics 3 3 7 0 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 8 1 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 4 0 0 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 7 0 0 0 9
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 4 1 1 3 0 0 0 9
Centogene AG - the Rare Disease Company 1 0 6 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 1 3 3 0 0 0 7
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 5 2 0 0 0 0 0 7
New York Genome Center 0 1 6 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 6 0 0 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 3 1 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 4 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 0 0 5
GenomeConnect - Simons Searchlight 4 1 0 0 0 0 0 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 2 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 0 4
MGZ Medical Genetics Center 2 0 1 0 0 0 0 3
Illumina Laboratory Services, Illumina 1 0 2 0 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 3 0 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 0 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 0 0 2
Mendelics 2 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 0 2 0 0 0 0 0 2
3billion 1 1 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 0 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 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 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 0 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 0 1

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