ClinVar Miner

Variants studied for generalized epilepsy with febrile seizures plus, type 2

Included ClinVar conditions (7):
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 risk factor not provided total
131 60 162 20 13 1 3 385

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 risk factor not provided total
LOC102724058, SCN1A 57 28 97 13 9 0 1 201
SCN1A 74 32 64 7 4 1 2 183
RELN, SLC26A5 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 0 0 71 17 11 0 0 99
Mendelics 38 4 0 0 0 0 0 42
Fulgent Genetics, Fulgent Genetics 14 4 19 3 1 0 0 41
Institute of Human Genetics, University of Leipzig Medical Center 10 9 10 1 1 0 0 31
Juno Genomics, Hangzhou Juno Genomics, Inc 3 7 7 0 0 0 0 17
Neuberg Centre For Genomic Medicine, NCGM 4 2 11 0 0 0 0 17
Lifecell International Pvt. Ltd 6 4 5 0 0 0 0 15
Baylor Genetics 1 4 9 0 0 0 0 14
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 5 0 0 0 0 0 14
OMIM 12 0 0 0 0 1 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 1 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 4 0 0 0 0 9
New York Genome Center 0 1 8 0 0 0 0 9
MGZ Medical Genetics Center 0 5 2 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 4 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 1 0 0 0 0 0 6
3billion, Medical Genetics 3 2 1 0 0 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 1 2 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 2 0 0 0 0 2
Center for Statistical Genetics, Columbia University 1 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 2
Genome-Nilou Lab 2 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
DASA 1 1 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Epilepsy and Neurogenetic Laboratory, Kaohsiung Chang Gung Memorial Hospital 0 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
School of Medicine NGS Core Facility, Fu Jen Catholic University 0 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 0 1

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