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
220 135 759 633 91 12 1798

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 190 112 715 621 81 8 1677
SCN8A 8 11 25 3 9 2 58
MVP-DT, PRRT2 15 11 5 5 1 2 37
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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 168 79 640 604 52 0 1543
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 4 4 9 0 0 0 17
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
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
Baylor Genetics 2 6 5 0 0 0 13
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
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 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
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
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
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
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1

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