ClinVar Miner

Variants studied for developmental and epileptic encephalopathy, 7

Included ClinVar conditions (2):
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 total
90 37 17 0 3 141

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 90 37 17 3 141

Submitter and significance breakdown #

Total submitters: 36
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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
Fulgent Genetics,Fulgent Genetics 4 1 5 0 10
Institute of Human Genetics, University of Leipzig Medical Center 3 7 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 7 0 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 4 0 0 8
OMIM 6 0 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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 2 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 2
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 1
Translational Oncology and Experimental Therapeutics Program-IBMCC,Consejo Superior de Investigaciones Científicas 1 0 0 0 1
Breda Genetics srl 0 1 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 1

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