ClinVar Miner

Variants studied for KCNQ2-related epileptic encephalopathy

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
86 22 10 0 3 117

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 86 22 10 3 117

Submitter and significance breakdown #

Total submitters: 28
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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
OMIM 7 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 4 0 0 7
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 3
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
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
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
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
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

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