ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 13

Coded as:
Minimum submission review status: Collection method:
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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 72 61 3 9 36 193

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 35 72 57 3 9 36 187
LOC114803470, SCN8A 1 0 2 0 0 0 3
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
SASH1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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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 14 1 0 0 30
3billion 6 5 6 0 0 0 17
Baylor Genetics 3 7 6 0 0 0 16
Mendelics 3 9 0 1 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 3 3 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 1 9 0 0 0 10
OMIM 9 0 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 2 1 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 1 0 4
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 4 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
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
MVZ Medizinische Genetik Mainz 0 0 3 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
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 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
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
New York Genome Center 0 1 1 0 0 0 2
University of British Columbia, BC Children's Hospital 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 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
Genomics, Clalit Research Institute, Clalit Health Care 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
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 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
Department of Neurology, Zibo Changguo Hospital 0 1 0 0 0 0 1

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