ClinVar Miner

Variants in gene KCNQ2

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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 not provided total
265 106 179 165 74 1 689

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 96 70 93 5 1 1 257
Early infantile epileptic encephalopathy 30 9 63 47 29 0 178
not specified 0 0 10 104 58 0 164
Benign familial neonatal seizures 1 110 6 2 0 4 0 122
Early infantile epileptic encephalopathy 7 83 13 1 0 3 0 98
Seizures 6 9 5 23 15 0 57
KCNQ2-Related Disorders 1 1 15 25 9 0 51
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 5 3 8 0 0 0 16
Inborn genetic diseases 6 3 0 0 0 0 9
Epileptic encephalopathy 3 3 0 0 0 0 6
Benign familial neonatal seizures 2 3 0 0 0 0 0 3
Benign Rolandic epilepsy 2 0 0 0 0 0 2
See cases 2 0 0 0 0 0 2
Seizures, benign familial neonatal, 1, and/or myokymia 2 0 0 0 0 0 2
Benign familial neonatal seizures 1 0 0 0 0 0 1
Continuous spike and waves during slow-wave sleep syndrome 0 0 1 0 0 0 1
Epileptic encephalopathy, early infantile, 1 1 0 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Seizures; Generalized hypotonia 1 0 0 0 0 0 1
Severe intellectual deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 94 61 59 98 54 0 366
Invitae 30 9 63 47 29 0 178
GeneReviews 172 0 0 0 5 0 177
Ambry Genetics 11 8 5 23 15 0 62
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 3 29 4 14 0 58
Illumina Clinical Services Laboratory,Illumina 0 0 15 25 9 0 49
Genetic Services Laboratory, University of Chicago 2 5 5 7 7 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 13 3 0 0 22
NeuroMeGen,Hospital Clinico Santiago de Compostela 14 5 0 0 0 0 19
OMIM 15 0 0 0 0 0 15
Athena Diagnostics Inc 1 0 3 2 4 0 10
Fulgent Genetics 4 1 5 0 0 0 10
PreventionGenetics 0 0 0 1 8 0 9
Neurogenetics Laboratory - MEYER,AOU Meyer 3 3 1 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 1 2 1 0 0 6
Baylor Miraca Genetics Laboratories, 2 0 2 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 2 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 1 2 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Translational Oncology and Experimental Therapeutics Program-IBMCC,Consejo Superior de Investigaciones Científicas 1 0 0 0 0 0 1

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