ClinVar Miner

Variants studied for Dravet syndrome

Included ClinVar conditions (12):
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
339 62 162 109 57 151 824

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1A 161 24 14 1 5 73 252
LOC102724058, SCN1A 125 18 19 4 3 78 221
SCN1A, SCN9A 0 1 44 68 39 0 151
STXBP1 39 14 4 5 0 0 59
GABRG2 0 0 31 17 5 0 53
SNX27 3 0 37 8 0 0 48
SCN9A 0 0 10 6 5 0 21
GABRA1 6 5 3 0 0 0 14
CDKL5 1 0 0 0 0 0 1
CFAP157, NIBAN2, PTRH1, SH2D3C, STXBP1, TOR2A, TTC16 1 0 0 0 0 0 1
LMX1B 1 0 0 0 0 0 1
LRSAM1, NIBAN2, STXBP1 1 0 0 0 0 0 1
SCN1A, SCN7A, SCN9A, TTC21B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Center for Bioinformatics, Peking University 223 0 0 0 0 0 223
Illumina Clinical Services Laboratory,Illumina 0 0 69 91 49 0 209
UniProtKB/Swiss-Prot 0 0 0 0 0 150 150
Mendelics 33 22 13 4 2 0 74
Invitae 3 0 37 8 0 0 48
Fulgent Genetics,Fulgent Genetics 9 2 23 0 0 0 34
Athena Diagnostics Inc 25 0 0 0 5 0 30
OMIM 21 0 0 0 0 0 21
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 12 1 0 0 0 13
Baylor Genetics 6 2 4 0 0 0 12
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 2 1 0 0 0 12
GeneReviews 10 0 0 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 7 0 0 0 9
Genetic Services Laboratory, University of Chicago 4 2 2 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 0 1 1 0 0 7
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 2 0 6
Neurogenetics Laboratory - MEYER,AOU Meyer 4 2 0 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 3 2 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Wu Jinyu Laboratory, Institute of Genomic Medicine,Wenzhou Medical University 2 0 0 0 0 0 2
VIB - Center for Molecular Neurology,University of Antwerp 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Unidad de Genómica Garrahan,Hospital de Pediatría Garrahan 1 0 0 0 0 0 1

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