ClinVar Miner

Variants studied for Lennox-Gastaut syndrome

Included ClinVar conditions (7):
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
92 43 231 124 68 5 557

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHD2 78 29 162 83 43 2 391
DNM1 8 7 54 38 23 0 130
GABRB3 4 6 6 0 0 1 17
CIZ1, DNM1 1 1 4 3 2 0 11
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
KCNQ3 0 0 0 0 0 1 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 48 13 194 120 68 0 443
GeneReviews 23 0 0 0 0 0 23
OMIM 19 0 1 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 1 7 9 2 0 0 19
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 1 0 0 6
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
GenomeConnect, ClinGen 0 0 0 0 0 4 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 2 1 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
Blueprint Genetics 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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
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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 0 1

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