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
84 16 9 0 3 109

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 84 16 9 3 109

Submitter and significance breakdown #

Total submitters: 24
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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 4 1 5 0 10
OMIM 7 0 0 0 7
Baylor Miraca Genetics Laboratories, 2 0 1 0 3
Genetic Services Laboratory, University of Chicago 1 2 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
HudsonAlpha Institute for Biotechnology 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 0 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 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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