ClinVar Miner

Variants studied for febrile seizures, familial

Included ClinVar conditions (21):
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
209 93 599 253 66 4 3 1190

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GABRG2 75 32 250 169 25 0 0 526
LOC102724058, SCN1A 57 24 93 13 9 0 1 193
SCN1A 68 30 54 7 5 1 2 166
ADGRV1 5 6 96 18 14 0 0 139
CPA6 0 1 52 20 2 0 0 74
ARFGEF1-DT, CPA6 1 0 38 22 8 0 0 63
SCN1A, SCN9A 0 0 8 4 3 0 0 15
HCN2 2 0 4 0 0 3 0 9
SCN9A 0 0 2 0 0 0 0 2
ADGRV1, LOC123497934, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273 0 0 1 0 0 0 0 1
GABRA1, GABRG2 1 0 0 0 0 0 0 1
RELN, SLC26A5 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 71 26 271 197 29 0 0 594
Illumina Laboratory Services, Illumina 0 0 131 34 21 0 0 186
Fulgent Genetics, Fulgent Genetics 15 5 85 22 15 0 0 142
Mendelics 40 4 2 0 0 0 0 46
Institute of Human Genetics, University of Leipzig Medical Center 12 11 17 1 1 0 0 42
OMIM 22 0 2 0 0 4 0 28
New York Genome Center 0 1 21 0 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 4 2 16 0 0 0 0 22
Baylor Genetics 2 5 12 0 0 0 0 19
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 6 0 0 0 0 0 15
Lifecell International Pvt. Ltd 6 4 5 0 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 0 8 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 2 0 8 0 0 0 0 10
MGZ Medical Genetics Center 0 5 5 0 0 0 0 10
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 5 1 3 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 6 0 0 0 0 8
3billion 3 2 3 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 2 0 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 5 0 0 0 0 6
Athena Diagnostics 0 0 0 0 5 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 2 0 0 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 3 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 2 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 0 0 2 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 1 2 0 0 0 0 0 3
Genome-Nilou Lab 2 0 0 0 1 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 0 2 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 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
Suma Genomics, 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
Department of Human Genetics, Hannover Medical School 0 1 0 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
Faculty of Engineering and Natural Sciences, Biruni University 0 1 0 0 0 0 0 1

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