ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy 7

Coded as:
Minimum submission review status: Collection method:
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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 total
85 22 2 0 3 107

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
KCNQ2 85 22 2 3 107

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance benign total
GeneReviews 65 0 0 3 68
NeuroMeGen,Hospital Clinico Santiago de Compostela 10 5 0 0 15
OMIM 7 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 3 0 0 6
Baylor Genetics 2 0 1 0 3
Genetic Services Laboratory, University of Chicago 1 2 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 1
Mendelics 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 1
Translational Oncology and Experimental Therapeutics Program-IBMCC,Consejo Superior de Investigaciones Científicas 1 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 1

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