ClinVar Miner

Variants studied for obsolete Dravet syndrome

Included ClinVar conditions (19):
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
531 238 373 239 31 216 1513

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1A 216 93 49 3 3 93 412
LOC102724058, SCN1A 173 67 65 4 9 111 387
SNX27 15 1 132 192 12 0 352
STXBP1 101 59 42 10 0 12 200
LOC129931442, SNX27 0 0 29 24 2 0 55
GABRA1 11 14 26 1 2 0 51
SCN1A, SCN9A 0 1 22 4 3 0 30
LOC130002651, STXBP1 4 2 2 0 0 0 7
SCN9A 0 0 3 0 0 0 3
GABRG2 0 0 2 0 0 0 2
AK1, ANGPTL2, CDK9, CFAP157, DPM2, ENG, FPGS, GARNL3, LMX1B, LRSAM1, MIR2861, MVB12B, NIBAN2, NRON, PBX3, PIP5KL1, PTRH1, RALGPS1, RPL12, SH2D3C, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79 1 0 0 0 0 0 1
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
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
LMX1B 1 0 0 0 0 0 1
LRSAM1, NIBAN2, STXBP1 1 0 0 0 0 0 1
MIR3911, STXBP1 0 0 0 1 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: 127
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 16 1 162 216 14 0 409
Center for Bioinformatics, Peking University 223 0 0 0 0 0 223
UniProtKB/Swiss-Prot 0 0 0 0 0 150 150
Institute of Human Genetics, University of Leipzig Medical Center 48 25 17 1 0 0 91
Mendelics 36 21 8 4 7 0 76
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 73 73
Fulgent Genetics, Fulgent Genetics 20 5 32 6 1 0 64
Neuberg Centre For Genomic Medicine, NCGM 11 11 20 0 0 0 42
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 12 7 11 0 0 0 30
Génétique des Maladies du Développement, Hospices Civils de Lyon 19 10 1 0 0 0 30
Lifecell International Pvt. Ltd 9 12 8 0 0 0 29
Baylor Genetics 9 7 11 0 0 0 27
Revvity Omics, Revvity 6 3 16 1 0 0 26
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 19 3 1 2 0 0 25
3billion, Medical Genetics 12 8 5 0 0 0 25
Athena Diagnostics 23 0 0 0 0 0 23
OMIM 22 0 0 0 0 0 22
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 14 7 0 0 0 0 21
New York Genome Center 1 1 19 0 0 0 21
Pediatric Department, Xiangya Hospital, Central South University 17 3 0 0 0 0 20
MGZ Medical Genetics Center 8 7 2 0 0 0 17
Illumina Laboratory Services, 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
Juno Genomics, Hangzhou Juno Genomics, Inc 5 5 6 0 0 0 16
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 10 3 1 0 0 0 14
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 12 1 0 0 0 13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 5 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 8 0 0 0 11
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 5 5 0 0 0 0 10
GeneReviews 0 0 0 0 0 10 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 4 0 0 0 0 10
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 9 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 0 0 0 2 0 9
Genetic Services Laboratory, University of Chicago 4 2 2 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 5 3 0 0 0 8
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 2 2 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 2 0 0 0 6
Neurogenetics Laboratory - MEYER, AOU Meyer 4 2 0 0 0 0 6
Centogene AG - the Rare Disease Company 0 1 4 0 0 0 5
Blueprint Genetics 2 3 0 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 2 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 4 1 0 0 0 0 5
MVZ Medizinische Genetik Mainz 2 2 1 0 0 0 5
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 2 2 0 0 1 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 2 1 0 0 0 4
Center of Excellence for Medical Genomics, Chulalongkorn University 4 0 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 3 1 0 0 0 0 4
School of Medicine NGS Core Facility, Fu Jen Catholic University 4 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 0 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 1 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 2 1 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 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
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Pediatric Genetics Clinic, Sheba Medical Center 3 0 0 0 0 0 3
DASA 2 1 0 0 0 0 3
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 3 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 0 2 0 0 0 0 2
Human Genetics Unit, University Of Colombo 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Wu Jinyu Laboratory, Institute of Genomic Medicine, Wenzhou Medical University 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 0 2
VIB - Center for Molecular Neurology, University of Antwerp 0 2 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 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
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 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
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Clinical Cytogenetics Laboratory, London Health Science Centre 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 0 1 0 0 0 1
Research Center for Genetics and Reproductive Health, Viet Nam National University HCMC 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol 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
Institute of Molecular Medicine and Oncology, Chongqing Medical University 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Running-Gene Inc. 1 0 0 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1

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