ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 4

Coded as:
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 not provided total
110 59 44 11 0 12 212

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
STXBP1 101 57 42 10 12 199
LOC130002651, STXBP1 4 2 2 0 0 7
CDKL5 1 0 0 0 0 1
CFAP157, NIBAN2, PTRH1, SH2D3C, STXBP1, TOR2A, TTC16 1 0 0 0 0 1
CFAP157, PTRH1, STXBP1, TTC16 1 0 0 0 0 1
LMX1B 1 0 0 0 0 1
LRSAM1, NIBAN2, STXBP1 1 0 0 0 0 1
MIR3911, STXBP1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 81
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Institute of Human Genetics, University of Leipzig Medical Center 18 5 7 1 0 31
Revvity Omics, Revvity 5 3 9 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 2 0 2 0 16
Pediatric Department, Xiangya Hospital, Central South University 12 3 0 0 0 15
Mendelics 8 3 1 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 3 3 5 0 0 11
GeneReviews 0 0 0 0 10 10
Génétique des Maladies du Développement, Hospices Civils de Lyon 8 2 0 0 0 10
Baylor Genetics 7 0 2 0 0 9
Fulgent Genetics, Fulgent Genetics 6 0 0 3 0 9
3billion, Medical Genetics 5 2 2 0 0 9
OMIM 8 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 4 2 2 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 0 4 0 0 8
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 6 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 0 0 0 0 4
MGZ Medical Genetics Center 3 1 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 2 1 0 0 4
New York Genome Center 0 1 3 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 2
Blueprint Genetics 0 2 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 1 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Wu Jinyu Laboratory, Institute of Genomic Medicine, Wenzhou Medical University 2 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 2
DASA 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 1 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 0 0 0 0 1
Clinical Cytogenetics Laboratory, London Health Science Centre 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 0 1 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 1
Institute of Molecular Medicine and Oncology, Chongqing Medical University 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 1
Running-Gene Inc. 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 1 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 1 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.