ClinVar Miner

Variants studied for benign partial infantile seizures

Included ClinVar conditions (10):
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
90 69 382 168 61 3 741

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN2A 67 58 353 166 61 2 676
PRRT2 17 5 11 0 0 1 33
SCN8A 3 5 5 0 0 0 13
LOC120977013, SCN2A 0 0 8 0 0 0 8
ATP1A2 0 0 0 2 0 0 2
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 1 0 1 0 0 0 2
LOC120977013, SCN2A, SCN3A 0 0 2 0 0 0 2
SCN2A, SCN3A 1 0 1 0 0 0 2
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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 30 282 150 34 0 553
Illumina Clinical Services Laboratory,Illumina 0 0 69 21 50 0 140
OMIM 22 0 0 0 0 0 22
Mendelics 1 11 4 1 2 0 19
Fulgent Genetics,Fulgent Genetics 2 1 13 0 0 0 16
Génétique des Maladies du Développement, Hospices Civils de Lyon 7 5 1 1 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 2 5 0 0 0 10
Baylor Genetics 1 5 3 0 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 6 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 5 0 0 0 8
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 5 0 0 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 1 3 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
Cell and Molecular Biology Laboratory,University of the Punjab Lahore 0 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 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
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1

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