ClinVar Miner

Variants in gene KCNT1

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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 total
21 18 231 324 73 557

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 14 257 51 294
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 6 0 116 99 47 268
not provided 13 13 105 15 8 151
Seizures 0 1 16 55 14 86
Early infantile epileptic encephalopathy 14 7 2 5 2 0 15
Epilepsy, nocturnal frontal lobe, 5 5 0 1 0 0 6
Malignant migrating partial seizures of infancy 0 2 0 0 0 2
Epilepsy 0 0 0 1 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
Inborn genetic diseases 1 0 0 0 0 1
Rolandic epilepsy 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 12 13 32 236 37 330
Invitae 7 0 112 99 47 265
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 52 16 24 93
Ambry Genetics 1 1 16 55 14 87
Genetic Services Laboratory, University of Chicago 1 0 7 17 4 29
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 21 4 0 25
Athena Diagnostics Inc 0 0 8 3 12 23
PreventionGenetics 0 0 0 3 16 19
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 3 11 0 15
OMIM 10 0 0 0 0 10
Baylor Miraca Genetics Laboratories, 3 0 3 0 0 6
GeneReviews 4 0 0 0 0 4
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
HudsonAlpha Institute for Biotechnology 0 0 0 2 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 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
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 1 0 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 1

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