ClinVar Miner

Variants studied for Dravet syndrome

Included ClinVar conditions (8):
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
320 70 173 55 15 151 725

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1A 178 39 18 1 4 73 283
LOC102724058, SCN1A 136 30 29 4 3 78 251
SNX27 5 0 98 46 5 0 154
SCN1A, SCN9A 0 1 22 4 3 0 30
SCN9A 0 0 3 0 0 0 3
GABRG2 0 0 2 0 0 0 2
CGN, LYSMD1, PI4KB, PIP5K1A, POGZ, PSMB4, PSMD4, RFX5, SCNM1, SELENBP1, SNX27, TMOD4, TNFAIP8L2, TUFT1, VPS72, ZNF687 0 0 1 0 0 0 1
SCN1A, SCN7A, SCN9A, TTC21B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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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
Invitae 5 0 99 46 5 0 155
UniProtKB/Swiss-Prot 0 0 0 0 0 150 150
Mendelics 27 18 13 4 2 0 64
Fulgent Genetics,Fulgent Genetics 6 2 23 0 0 0 31
Athena Diagnostics Inc 25 0 0 0 4 0 29
Institute of Human Genetics, University of Leipzig Medical Center 13 6 3 0 0 0 22
Baylor Genetics 2 5 9 0 0 0 16
Illumina Clinical Services Laboratory,Illumina 0 0 9 4 3 0 16
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 11 1 0 0 0 12
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 6 4 2 0 0 0 12
OMIM 11 0 0 0 0 0 11
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 3 1 0 0 0 9
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 4 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 6 0 0 0 8
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 1 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 1 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 2 0 0 0 4
Blueprint Genetics 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 2 0 1 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 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
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 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
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1

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