ClinVar Miner

Variants studied for benign familial neonatal-infantile seizures

Included ClinVar conditions (3):
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
69 58 365 168 61 2 692

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 67 58 353 166 61 2 676
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

Submitter and significance breakdown #

Total submitters: 20
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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
Mendelics 1 11 4 1 2 0 19
Fulgent Genetics,Fulgent Genetics 2 0 8 0 0 0 10
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 3 1 1 0 0 9
OMIM 8 0 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 4 0 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 1 3 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Baylor Genetics 0 2 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Cell and Molecular Biology Laboratory,University of the Punjab Lahore 0 0 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1

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