ClinVar Miner

Variants studied for benign partial infantile seizures

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
93 24 198 76 52 21 428

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN2A 34 15 152 76 34 1 290
CACNA1A 15 2 12 0 12 16 47
ATP1A2 13 0 11 0 1 0 25
PRRT2 15 2 2 0 0 0 18
SCN1A 6 2 5 0 4 0 17
LOC102724058, SCN1A 5 0 8 0 1 4 15
SCN8A 2 2 4 0 0 0 8
SCN2A, SCN3A 0 0 3 0 0 0 3
​intergenic 1 0 0 0 0 0 1
CACNA1A, LOC108663985 1 0 0 0 0 0 1
KCNQ3 1 0 0 0 0 0 1
LOC114803470, SCN8A 0 0 1 0 0 0 1
MVP, PRRT2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 24 9 98 40 29 0 200
Illumina Clinical Services Laboratory,Illumina 0 0 50 40 6 0 96
Fulgent Genetics,Fulgent Genetics 11 3 43 0 0 0 57
OMIM 50 0 0 0 0 0 50
UniProtKB/Swiss-Prot 0 0 0 0 0 19 19
Athena Diagnostics Inc 0 0 0 0 18 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 2 8 0 0 0 13
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 5 0 0 0 0 5
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 3 1 0 0 0 5
Baylor Miraca Genetics Laboratories, 0 1 2 0 0 0 3
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
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 1 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
GeneReviews 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1

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