ClinVar Miner

Variants studied for Autosomal dominant nocturnal frontal lobe epilepsy 5

Coded as:
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
14 7 80 172 71 4 340

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNT1 11 7 80 172 71 4 337
SPAG1 3 0 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 0 64 172 71 0 307
OMIM 7 0 0 0 0 0 7
Baylor Genetics 1 0 5 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 3 2 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 1 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 1 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Illumina Laboratory Services, Illumina 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 1 0 0 0 0 1

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