ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 5

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
18 42 148 54 126 1 355

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPTAN1 18 40 148 54 126 1 353
BAX 0 1 0 0 0 0 1
DYNC2I2, GLE1, SPTAN1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 4 67 31 126 0 228
Institute of Human Genetics, University of Leipzig Medical Center 3 15 10 3 1 0 32
Genetic Services Laboratory, University of Chicago 2 1 20 0 0 0 23
Fulgent Genetics, Fulgent Genetics 0 0 6 11 4 0 21
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 9 1 0 0 12
Baylor Genetics 0 1 8 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 2 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 6 0 0 0 7
3billion 1 2 3 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 6 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
OMIM 6 0 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 2 0 5
New York Genome Center 1 0 4 0 0 0 5
Solve-RD Consortium 0 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 1 0 0 5
MVZ Medizinische Genetik Mainz 0 3 1 0 0 0 4
Mendelics 2 0 1 0 1 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 1 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 1 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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