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
306 36 134 112 60 151 751

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
SCN1A 151 12 9 0 5 73 227
LOC102724058, SCN1A 113 12 12 1 1 78 196
SCN1A, SCN9A 0 1 44 68 39 0 151
GABRG2 0 0 31 17 5 0 53
SNX27 2 0 23 15 5 0 45
STXBP1 32 7 3 5 0 0 44
SCN9A 0 0 10 6 5 0 21
GABRA1 5 4 2 0 0 0 11
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

Submitter and significance breakdown #

Total submitters: 38
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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
Invitae 2 0 23 15 5 0 45
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 13 7 0 0 0 0 20
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 12 1 0 0 0 13
Baylor Miraca Genetics Laboratories, 6 1 4 0 0 0 11
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 4 0 2 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
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,Institute of Human Genetics 0 1 2 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 0 0 0 0 0 2
Wu Jinyu Laboratory, Institute of Genomic Medicine,Wenzhou Medical University 2 0 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
Mendelics 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 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
Rady Children's Institute for Genomic Medicine,Rady Children's Hospital San Diego 0 1 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

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