ClinVar Miner

Variants studied for Lennox-Gastaut syndrome

Included ClinVar conditions (6):
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
59 11 95 55 38 2 259

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHD2 46 6 70 34 26 1 182
DNM1 8 4 18 19 11 0 60
GABRB3 4 1 2 0 0 0 7
CIZ1, DNM1 1 0 1 2 1 0 5
GATM 0 0 1 0 0 0 1
LOC102724058, SCN1A 0 0 0 0 0 1 1
MAPK10 0 0 1 0 0 0 1
POLG 0 0 1 0 0 0 1
ZEB2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 16 5 79 55 38 0 193
GeneReviews 23 0 0 0 0 0 23
OMIM 19 0 1 0 0 0 20
Fulgent Genetics 2 0 6 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 4 0 0 0 5
Baylor Miraca Genetics Laboratories, 1 1 2 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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