ClinVar Miner

Variants studied for developmental and epileptic encephalopathy 99

Included ClinVar conditions (2):
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 total
12 9 9 10 49 85

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 total
ATP1A3 12 9 6 10 48 81
ATP1A3, LOC130064543 0 0 3 0 1 4

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 49 49
Fulgent Genetics, Fulgent Genetics 0 0 4 10 1 15
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 1 0 0 4
OMIM 3 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 3 0 0 0 0 3
3billion 1 2 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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