ClinVar Miner

Variants studied for Dravet syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
432 218 328 237 28 206 1338

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1A 229 113 63 3 4 95 450
LOC102724058, SCN1A 181 100 82 5 9 111 434
SNX27 15 1 134 205 12 0 367
LOC129931442, SNX27 0 0 30 24 2 0 56
SCN1A, SCN9A 0 1 15 0 1 0 17
SCN9A 0 0 3 0 0 0 3
CGN, LYSMD1, PI4KB, PIP5K1A, POGZ, PSMB4, PSMD4, RFX5, SCNM1, SELENBP1, SNX27, TMOD4, TNFAIP8L2, TUFT1, VPS72, ZNF687 0 0 1 0 0 0 1
CGN, POGZ, PSMB4, RFX5, SELENBP1, SNX27, TUFT1 1 0 0 0 0 0 1
CSRNP3, GALNT3, SCN1A, SCN2A, SCN7A, SCN9A, TTC21B, XIRP2 1 0 0 0 0 0 1
HBA-LCR, NPRL3 0 1 0 0 0 0 1
HCN1 1 0 0 0 0 0 1
MED27 0 1 0 0 0 0 1
MVP-DT, PRRT2 1 0 0 0 0 0 1
SCN1A, SCN7A, SCN9A 1 0 0 0 0 0 1
SCN1A, SCN7A, SCN9A, TTC21B 1 0 0 0 0 0 1
SCN1B 1 0 0 0 0 0 1
SCN2A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 101
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 16 1 165 229 14 0 425
Center for Bioinformatics, Peking University 223 0 0 0 0 0 223
UniProtKB/Swiss-Prot 0 0 0 0 0 150 150
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 73 73
Mendelics 27 18 7 4 7 0 63
Institute of Human Genetics, University of Leipzig Medical Center 35 20 7 0 0 0 62
Fulgent Genetics, Fulgent Genetics 14 4 32 3 1 0 54
3billion 15 16 14 0 0 0 45
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 25 19 0 0 0 0 44
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 12 13 0 1 0 34
Neuberg Centre For Genomic Medicine, NCGM 8 8 15 0 0 0 31
Lifecell International Pvt. Ltd 9 12 8 0 0 0 29
Athena Diagnostics 22 0 0 0 0 0 22
Baylor Genetics 2 7 8 0 0 0 17
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 7 1 0 0 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 3 8 6 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 1 3 0 0 0 15
MGZ Medical Genetics Center 5 6 2 0 0 0 13
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 6 4 2 0 0 0 12
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 11 1 0 0 0 12
New York Genome Center 1 0 11 0 0 0 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 1 1 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 7 0 0 0 10
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 4 4 2 0 0 0 10
OMIM 10 0 0 0 0 0 10
Department of Neurology, Zibo Changguo Hospital 4 5 0 0 0 0 9
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 4 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 4 0 0 0 8
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry 4 2 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 1 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 2 1 0 0 0 6
Institute of Human Genetics Munich, TUM University Hospital 5 1 0 0 0 0 6
Neurogenetics Laboratory - MEYER, AOU Meyer 4 2 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 2 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 1 0 0 0 5
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 2 2 0 0 1 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 2 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 4 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 2 0 0 0 5
Pediatric Department, Xiangya Hospital, Central South University 5 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 2 0 0 0 4
Department of Human Genetics, Hannover Medical School 2 1 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute of Immunology and Genetics Kaiserslautern 2 2 0 0 0 0 4
MVZ Medizinische Genetik Mainz 1 1 2 0 0 0 4
School of Medicine NGS Core Facility, Fu Jen Catholic University 4 0 0 0 0 0 4
Blueprint Genetics 2 1 0 0 0 0 3
Center of Human Genetics, Hôpital Erasme 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
MVZ Martinsried, Medicover Genetics 1 2 0 0 0 0 3
Pediatric Neurology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research 3 0 0 0 0 0 3
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Human Genetics Unit, University Of Colombo 0 2 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 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
Suma Genomics 1 1 0 0 0 0 2
VIB - Center for Molecular Neurology, University of Antwerp 0 2 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 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
Centre for Medical Genetics, Mumbai 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 1 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Neurology Department, Shenzhen Children's Hospital 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 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
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1

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