ClinVar Miner

Variants studied for seizures, benign familial infantile, 5

Included ClinVar conditions (5):
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
10 16 27 4 9 2 68

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN8A 9 15 26 3 9 2 64
LOC114803470, SCN8A 0 0 1 1 0 0 2
ACVR1B, ACVRL1, ANKRD33, FIGNL2, SCN8A 0 1 0 0 0 0 1
KCNQ3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 1 6 4 1 0 12
Baylor Genetics 1 6 4 0 0 0 11
Genome-Nilou Lab 0 0 0 0 8 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 1 5 0 0 0 7
New York Genome Center 1 0 6 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Center of Excellence for Medical Genomics, Chulalongkorn University 3 1 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 0 0 0 3
University of British Columbia, BC Children's Hospital 2 1 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 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
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Watson Genetic Lab 0 1 0 0 0 0 1

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