ClinVar Miner

Variants studied for benign familial infantile epilepsy

Included ClinVar conditions (8):
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
62 49 282 82 61 3 511

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN2A 50 41 271 82 61 2 480
PRRT2 8 3 3 0 0 1 14
SCN8A 3 5 4 0 0 0 12
SCN2A, SCN3A 0 0 3 0 0 0 3
KCNQ3 1 0 0 0 0 0 1
LOC114803470, SCN8A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 40 21 195 65 34 0 355
Illumina Clinical Services Laboratory,Illumina 0 0 69 21 50 0 140
Mendelics 1 11 4 1 2 0 19
OMIM 16 0 0 0 0 0 16
Fulgent Genetics,Fulgent Genetics 2 1 13 0 0 0 16
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 5 1 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 5 0 0 0 8
Baylor Genetics 0 4 0 0 0 0 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 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 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1

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