ClinVar Miner

Variants studied for developmental and epileptic encephalopathy, 13

Included ClinVar conditions (6):
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
37 73 69 6 10 38 208

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN8A 36 72 65 5 10 38 201
LOC114803470, SCN8A 0 0 3 1 0 0 4
ACVR1B, ACVRL1, ANKRD33, FIGNL2, SCN8A 0 1 0 0 0 0 1
ALDH7A1 1 0 0 0 0 0 1
LOC121530581, LOC130057054, LOC130057055, LOC130057056, LOC130057057, LOC130057058, LOC130057059, LOC130057060, LOC130057061, LOC130057062, LOC130057063, LOC130057064, LYSMD2, SCG3, TMOD2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneReviews 1 0 0 0 0 36 37
Institute of Human Genetics, University of Leipzig Medical Center 4 11 13 1 0 0 29
Baylor Genetics 3 10 6 0 0 0 19
Mendelics 3 9 0 1 0 0 13
Fulgent Genetics, Fulgent Genetics 0 1 6 4 1 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 3 3 0 0 0 10
3billion 4 2 4 0 0 0 10
OMIM 9 0 0 0 0 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 3 1 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 1 7 0 0 0 8
New York Genome Center 1 1 5 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 3 0 0 0 6
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 4 0 0 0 6
Genetic Services Laboratory, University of Chicago 1 3 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 1 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 4 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 2 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 3 0 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
University of British Columbia, BC Children's Hospital 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
National Institute for Data Science in Health and Medicine, School of Medicine, Xiamen University 1 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 1

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