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
65 22 127 30 8 2 251

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHD2 51 14 87 18 5 1 173
DNM1 8 6 30 11 2 0 57
GABRB3 4 2 3 0 0 0 9
CIZ1, DNM1 1 0 2 1 1 0 5
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 1
GABRG2 1 0 0 0 0 0 1
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: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 7 103 29 8 0 166
GeneReviews 23 0 0 0 0 0 23
OMIM 19 0 1 0 0 0 20
Mendelics 2 2 4 1 0 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 5 3 0 0 0 9
Fulgent Genetics,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 Genetics 1 1 2 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 3 0 0 0 4
HudsonAlpha Institute for Biotechnology, 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 0 1

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