ClinVar Miner

Variants in gene KCNT1

See also:
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
28 32 456 546 167 1073

Condition and significance breakdown #

Total conditions: 16
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 17 3 326 285 58 686
not provided 17 15 134 151 94 389
not specified 0 1 14 257 51 296
Seizures 1 1 14 57 15 88
Early infantile epileptic encephalopathy 14 9 9 8 4 3 32
Epilepsy, nocturnal frontal lobe, 5 7 1 17 0 1 25
Malignant migrating partial seizures of infancy 1 2 0 0 0 3
Inborn genetic diseases 1 1 0 0 0 2
Epilepsy 0 0 0 1 0 1
Epilepsy syndrome 1 0 0 0 0 1
Epileptic encephalopathy 0 0 1 0 0 1
Focal epilepsy 0 0 1 0 0 1
Hydrocephalus 0 0 1 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 1
Rolandic epilepsy 1 0 0 0 0 1
none provided 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 39
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 16 3 322 325 59 725
GeneDx 12 13 32 281 114 452
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 52 16 24 93
Ambry Genetics 1 2 13 57 15 88
CeGaT Praxis fuer Humangenetik Tuebingen 7 2 47 24 0 80
Athena Diagnostics Inc 0 0 13 4 23 40
Genetic Services Laboratory, University of Chicago 1 0 7 17 4 29
PreventionGenetics, PreventionGenetics 0 0 0 3 16 19
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 3 11 0 15
Baylor Genetics 6 0 7 0 0 13
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 4 2 0 0 11
OMIM 10 0 0 0 0 10
Mendelics 0 2 1 3 3 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 1 5
Institute of Human Genetics, University of Leipzig Medical Center 2 0 4 0 0 5
GeneReviews 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
Neurogenetics Laboratory - MEYER,AOU Meyer 0 2 2 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 1 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 1 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.