ClinVar Miner

Variants in gene CHD8

Minimum submission review status: Collection method:
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Gene type:
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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 risk factor not provided total
29 17 71 35 18 8 1 169

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
History of neurodevelopmental disorder 2 0 24 32 15 0 0 73
not provided 17 8 42 0 0 0 0 66
Autism, susceptibility to, 18 6 8 1 2 0 8 1 26
Inborn genetic diseases 4 1 5 0 0 0 0 10
not specified 0 0 1 3 5 0 0 9
CHD8-Related Disorders 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Ambry Genetics 6 1 29 32 15 0 0 83
GeneDx 15 6 15 0 0 0 0 36
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 25 3 5 0 0 35
OMIM 0 0 0 0 0 8 0 8
Baylor Miraca Genetics Laboratories, 2 1 0 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 1 0 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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