ClinVar Miner

Variants studied for autosomal dominant nocturnal frontal lobe epilepsy 4

Included ClinVar conditions (1):
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
2 1 73 3 54 3 131

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHRNA2 2 1 73 3 54 3 131

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 45 1 53 0 99
Fulgent Genetics, Fulgent Genetics 0 0 8 0 0 0 8
Revvity Omics, Revvity 0 0 7 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Mendelics 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1

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