ClinVar Miner

Variants studied for Severe myoclonic epilepsy in infancy

Coded as:
Minimum submission review status: Collection method:
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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
396 147 248 225 28 200 1165

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1A 204 83 27 1 2 90 368
LOC102724058, SCN1A 172 61 47 4 9 110 363
SNX27 15 1 132 192 12 0 352
LOC129931442, SNX27 0 0 29 24 2 0 55
SCN1A, SCN9A 0 1 10 4 3 0 18
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
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
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: 77
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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
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 31 17 7 0 0 0 55
Neuberg Centre For Genomic Medicine, NCGM 8 8 15 0 0 0 31
Lifecell International Pvt. Ltd 8 10 8 0 0 0 26
Athena Diagnostics 23 0 0 0 0 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 7 6 0 0 0 21
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 14 6 0 0 0 0 20
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 7 1 0 0 0 17
Illumina Laboratory Services, Illumina 0 0 9 4 3 0 16
3billion, Medical Genetics 7 6 3 0 0 0 16
Baylor Genetics 2 6 7 0 0 0 15
MGZ Medical Genetics Center 5 6 2 0 0 0 13
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 1 1 0 0 0 11
OMIM 10 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 1 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 2 0 6
Neurogenetics Laboratory - MEYER, AOU Meyer 4 2 0 0 0 0 6
Pediatric Department, Xiangya Hospital, Central South University 5 0 0 0 0 0 5
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 2 2 0 0 1 0 5
New York Genome Center 1 0 3 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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
MVZ Medizinische Genetik Mainz 1 1 1 0 0 0 3
Human Genetics Unit, University Of Colombo 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
VIB - Center for Molecular Neurology, University of Antwerp 0 2 0 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Department of Neurology, Zibo Changguo Hospital 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
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 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
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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
DASA 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
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1

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