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 not provided total
51 61 1170 1351 255 25 2587

Condition and significance breakdown #

Total conditions: 42
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 34 13 877 1110 104 1 2121
not provided 27 15 316 311 172 0 764
Developmental and epileptic encephalopathy, 14 18 26 105 178 71 0 390
Autosomal dominant nocturnal frontal lobe epilepsy 5 11 7 80 174 71 4 339
Inborn genetic diseases 2 4 133 170 22 0 331
not specified 0 1 39 204 83 0 299
KCNT1-related disorder 2 1 13 42 14 0 72
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
See cases 1 1 3 1 0 0 6
Seizure 5 1 0 0 0 0 6
Lung cancer 0 0 0 0 0 3 3
Malignant migrating partial seizures of infancy 1 2 0 0 0 0 3
Epilepsy 1 0 0 1 0 0 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Intellectual disability 0 0 1 1 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 1 0 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 5; Malignant migrating partial seizures of infancy 0 0 0 0 0 1 1
Cervical cancer 0 0 0 0 0 1 1
Childhood-onset epilepsy syndrome 1 0 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Congenital anomaly of kidney and urinary tract 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy 97 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 15 1 0 0 0 0 0 1
Epilepsy syndrome 1 0 0 0 0 0 1
Epileptic encephalopathy 0 0 1 0 0 0 1
Focal epilepsy 0 0 1 0 0 0 1
Hearing impairment 0 0 1 0 0 0 1
Hydrocephalus 0 0 1 0 0 0 1
KCNT1-related channelopathy 1 0 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Morphological central nervous system abnormality 0 0 0 1 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Neurodevelopmental delay 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Schizophrenia 0 0 1 0 0 0 1
Self-limited epilepsy with centrotemporal spikes 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 95
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 34 12 861 1108 104 0 2119
GeneDx 25 10 150 342 169 0 696
Ambry Genetics 2 4 133 170 22 0 331
Genome-Nilou Lab 0 0 64 174 73 0 307
CeGaT Center for Human Genetics Tuebingen 8 2 79 137 13 0 239
Breakthrough Genomics, Breakthrough Genomics 0 0 1 38 56 0 95
Eurofins Ntd Llc (ga) 1 0 52 16 24 0 93
PreventionGenetics, part of Exact Sciences 2 1 13 44 30 0 90
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 27 27 0 0 54
Athena Diagnostics 0 1 13 6 28 0 48
Revvity Omics, Revvity 3 0 34 1 1 0 39
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 33 0 33
Genetic Services Laboratory, University of Chicago 1 0 7 18 4 0 30
Mayo Clinic Laboratories, Mayo Clinic 2 0 3 4 21 0 30
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 1 0 15 5 0 23
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 3 8 8 0 20
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 19 19
Fulgent Genetics, Fulgent Genetics 1 0 10 7 0 0 18
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 5 2 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 6 5 5 1 0 0 16
Mendelics 4 1 3 4 4 0 16
Neuberg Centre For Genomic Medicine, NCGM 1 4 11 0 0 0 16
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 3 11 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 9 0 15
Baylor Genetics 7 1 6 0 0 0 14
3billion 5 3 4 1 0 0 13
New York Genome Center 1 0 12 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 8 1 0 0 10
OMIM 10 0 0 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 9 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 5 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 3 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 4 1 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 4 0 7
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 3 2 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 1 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 4 0 0 5
Clinical Genetics, Academic Medical Center 0 0 0 0 4 0 4
GeneReviews 0 0 0 0 0 4 4
Illumina Laboratory Services, Illumina 0 0 4 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 0 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 0 2 2 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Dasa 1 0 0 0 1 0 2
Department of Neurology, Zibo Changguo Hospital 1 1 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Laboratory of Medical Genetics, University of Torino 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 0 1 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Ozbek Human Genetics Laboratory, Izmir Biomedicine and Genome Center 0 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1

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