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
375 128 243 204 27 200 1103

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1A 193 74 23 1 2 90 348
LOC102724058, SCN1A 164 52 44 3 8 110 342
SNX27 14 0 133 176 12 0 335
LOC129931442, SNX27 0 0 30 20 2 0 52
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
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: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 0 164 196 14 0 388
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 8 4 7 0 64
Institute of Human Genetics, University of Leipzig Medical Center 27 13 7 0 0 0 47
Lifecell International Pvt. Ltd 8 10 8 0 0 0 26
Athena Diagnostics Inc 23 0 0 0 0 0 23
Neuberg Centre For Genomic Medicine, NCGM 6 5 11 0 0 0 22
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 7 6 3 0 0 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 6 5 0 0 0 16
Baylor Genetics 2 6 7 0 0 0 15
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 14 0 0 0 0 0 14
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
OMIM 10 0 0 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 1 1 0 0 0 10
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 0 0 3
New York Genome Center 1 0 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 2
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
VIB - Center for Molecular Neurology, University of Antwerp 0 2 0 0 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 0 2 0 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 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
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 Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 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
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
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 1

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