ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
28 22 35 1 2 8 94

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARX 10 8 14 0 0 0 32
ARX, LOC109610631 7 2 2 0 1 0 11
KCNQ2 3 1 0 0 0 1 5
WWOX 2 2 0 0 1 0 5
SYNJ1 0 1 2 0 0 1 4
CACNA1A 0 0 3 0 0 0 3
SCN1A 2 1 0 0 0 0 3
ALDH7A1 0 0 2 0 0 0 2
ARHGEF9 0 0 0 0 0 2 2
KCNA2 0 2 0 0 0 1 2
PACS2 1 0 1 0 0 0 2
ALG13 0 0 1 0 0 0 1
CCNF, TBC1D24 0 0 1 0 0 0 1
CDKL5 0 1 0 0 0 0 1
CFAP96, UFSP2 1 0 0 0 0 0 1
CHD2 0 0 0 0 0 1 1
CSNK1E, LOC126863148, TPTEP2-CSNK1E 1 0 0 0 0 0 1
DNM1 0 0 0 0 0 1 1
GABRB3 0 0 1 0 0 0 1
GNAO1 0 1 0 0 0 0 1
GRIN1 0 1 0 0 0 0 1
HNRNPU 0 0 0 0 0 1 1
MAF, WWOX 0 0 1 0 0 0 1
NAPB 0 0 1 0 0 0 1
NRXN2 0 0 1 0 0 0 1
PCDH19 0 0 1 0 0 0 1
PLCB1 0 0 0 1 0 0 1
REPS2 0 0 1 0 0 0 1
SCN8A 0 1 0 0 0 0 1
SLC25A12 0 1 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 1
SLC35A2 0 0 1 0 0 0 1
ST3GAL3 0 0 1 0 0 0 1
SZT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 12 1 0 0 15
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 5 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 2 6 0 0 0 10
OMIM 9 0 0 0 0 0 9
Mendelics 4 2 1 0 2 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 3 3 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
3billion 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 1 0 0 0 0 1
Wu Jinyu Laboratory, Institute of Genomic Medicine, Wenzhou Medical University 1 0 0 0 0 0 1
Poduri Lab, Boston Children's Hospital 0 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1

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