ClinVar Miner

Variants studied for obsolete Dravet syndrome

Included ClinVar conditions (13):
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
376 89 156 35 16 151 760

Gene and significance breakdown #

Total genes and gene combinations: 14
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1A 175 34 16 1 5 73 275
LOC102724058, SCN1A 133 26 22 4 3 78 238
SNX27 5 0 79 21 5 0 110
STXBP1 50 21 9 5 0 0 80
SCN1A, SCN9A 0 1 21 4 3 0 29
GABRA1 7 7 4 0 0 0 17
SCN9A 0 0 3 0 0 0 3
GABRG2 0 0 2 0 0 0 2
CDKL5 1 0 0 0 0 0 1
CFAP157, NIBAN2, PTRH1, SH2D3C, STXBP1, TOR2A, TTC16 1 0 0 0 0 0 1
CFAP157, PTRH1, STXBP1, 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: 55
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Center for Bioinformatics, Peking University 223 0 0 0 0 0 223
UniProtKB/Swiss-Prot 0 0 0 0 0 150 150
Invitae 5 0 79 21 5 0 110
Mendelics 33 22 13 4 2 0 74
Institute of Human Genetics, University of Leipzig Medical Center 21 9 7 0 0 0 37
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
Génétique des Maladies du Développement, Hospices Civils de Lyon 11 6 1 0 0 0 18
Illumina Clinical Services Laboratory,Illumina 1 0 9 4 3 0 17
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 7 6 4 0 0 0 17
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 12 1 0 0 0 13
Baylor Genetics 6 2 4 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 2 0 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 2 0 6
Institute of Human Genetics,Klinikum rechts der Isar 4 2 0 0 0 0 6
Neurogenetics Laboratory - MEYER,AOU Meyer 4 2 0 0 0 0 6
Blueprint Genetics 2 3 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 0 0 5
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 2 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
Undiagnosed Diseases Network,NIH 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 1 2 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 3 0 0 0 0 0 3
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 2 0 1 0 0 0 3
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
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 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
Human Genetics Unit,University of Colombo 0 1 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
Genatak 1 0 0 0 0 0 1
Clinical Cytogenetics Laboratory,London Health Science Centre 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
Research Center for Genetics and Reproductive Health,Viet Nam National University HCMC 0 1 0 0 0 0 1
Institute of Molecular Medicine and Oncology,Chongqing Medical University 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.