ClinVar Miner

Variants in gene KCNB1

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
35 50 121 111 35 327

Condition and significance breakdown #

Total conditions: 15
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Epileptic encephalopathy, early infantile, 26 13 22 101 70 32 231
not provided 11 15 17 22 7 72
not specified 0 0 3 44 12 59
Epileptic encephalopathy 13 6 0 0 0 19
Intellectual disability 6 5 0 1 0 12
Inborn genetic diseases 0 4 1 0 0 5
Early infantile epileptic encephalopathy with suppression bursts 2 2 0 0 0 4
developmental encephalopathy with epilepsy 3 0 0 0 0 3
Seizures 0 0 2 0 0 2
KCNB1-related disorder 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 1
Myoclonic absences 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 1
Seizures; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Difficulty walking; Epileptic encephalopathy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 9 92 77 33 216
GeneDx 8 12 11 50 12 93
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 18 11 0 0 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 2 4 9 3 0 18
Baylor Genetics 3 2 2 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 3 4 0 0 7
Athena Diagnostics Inc 0 0 0 0 5 5
Ambry Genetics 0 4 1 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 3 1 0 0 0 4
OMIM 3 0 0 0 0 3
Mendelics 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 1
Shieh Lab,University of California, San Francisco 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.