ClinVar Miner

Variants studied for benign familial infantile epilepsy

Included ClinVar conditions (18):
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
228 144 764 633 91 12 1817

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN2A 196 116 717 621 81 8 1688
SCN8A 9 15 26 3 9 2 64
MVP-DT, PRRT2 16 12 7 5 1 2 39
LOC120977013, SCN2A 0 0 8 0 0 0 8
SCN2A, SCN3A 2 0 1 0 0 0 3
ATP1A2 0 0 0 2 0 0 2
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 1 0 1 0 0 0 2
CSRNP3, GALNT3, SCN1A, SCN2A, SCN9A, TTC21B 1 0 1 0 0 0 2
LOC114803470, SCN8A 0 0 1 1 0 0 2
LOC120977013, LOC129935043, SCN2A, SCN3A 0 0 2 0 0 0 2
ACVR1B, ACVRL1, ANKRD33, FIGNL2, SCN8A 0 1 0 0 0 0 1
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 1 0 0 0 0 0 1
JMJD1C 0 0 0 1 0 0 1
KCNQ3 1 0 0 0 0 0 1
PRRT2 1 0 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 not provided total
Labcorp Genetics (formerly Invitae), Labcorp 171 80 640 604 52 0 1547
Illumina Laboratory Services, Illumina 0 0 69 21 50 0 140
Fulgent Genetics, Fulgent Genetics 5 1 20 13 1 0 40
Mendelics 13 12 3 1 2 0 31
Institute of Human Genetics, University of Leipzig Medical Center 6 4 9 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 12 2 0 0 17
OMIM 16 0 0 0 0 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 7 3 6 0 0 0 16
Baylor Genetics 2 8 5 0 0 0 15
Genome-Nilou Lab 0 0 0 0 15 0 15
Génétique des Maladies du Développement, Hospices Civils de Lyon 7 5 1 1 0 0 14
New York Genome Center 2 0 11 0 0 0 13
Neurology Department, Shenzhen Children's Hospital 12 0 0 0 0 0 12
MGZ Medical Genetics Center 3 2 3 0 0 0 8
GenomeConnect - Brain Gene Registry 0 0 0 0 0 7 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 1 3 0 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Center of Excellence for Medical Genomics, Chulalongkorn University 3 1 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 3 0 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
University of British Columbia, BC Children's Hospital 2 1 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 1 0 0 1 0 0 2
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 0 0 0 2 0 0 2
Molecular Genetics Lab, CHRU Brest 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 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
GeneReviews 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Suma Genomics 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1

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