ClinVar Miner

Variants in gene KCNB1

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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
61 70 275 293 94 20 708

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy, 26 35 38 205 253 86 0 593
not provided 21 21 68 55 19 20 187
not specified 0 0 3 27 13 0 43
Inborn genetic diseases 1 4 14 6 0 0 25
Epileptic encephalopathy 13 6 0 0 0 0 19
KCNB1-related condition 0 1 7 8 2 0 18
Intellectual disability 6 5 0 1 0 0 12
Early infantile epileptic encephalopathy with suppression bursts 2 2 0 0 0 0 4
developmental encephalopathy with epilepsy 3 0 0 0 0 0 3
Neurodevelopmental delay 2 0 0 0 0 0 2
Seizure 0 0 2 0 0 0 2
KCNB1-related disorder 1 0 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 1
Myoclonic absence seizure 0 1 0 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Seizure; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Difficulty walking; Epileptic encephalopathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 15 174 256 86 0 553
GeneDx 17 13 50 61 25 0 166
CeGaT Center for Human Genetics Tuebingen 3 6 14 20 3 0 46
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 18 11 0 0 0 0 29
Ambry Genetics 1 4 14 6 0 0 25
Kearney Laboratory, Northwestern University Feinberg School of Medicine 0 0 0 0 0 20 20
PreventionGenetics, part of Exact Sciences 0 1 7 8 2 0 18
Institute of Human Genetics, University of Leipzig Medical Center 4 3 5 0 0 0 11
Baylor Genetics 3 3 3 0 0 0 9
Revvity Omics, Revvity 0 0 8 0 0 0 8
Mendelics 2 5 0 0 1 0 8
Fulgent Genetics, Fulgent Genetics 1 1 0 3 1 0 6
New York Genome Center 1 1 4 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 3 1 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 4
OMIM 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 2 0 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 1 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 1 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 3 0 0 0 3
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 2 0 0 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 0 2 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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