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
320 76 151 79 14 150 732

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1A 178 44 14 1 2 72 281
LOC102724058, SCN1A 136 31 26 3 3 78 249
SNX27 5 0 98 71 6 0 180
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
SCN1A, SCN7A, SCN9A, TTC21B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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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 71 6 0 181
UniProtKB/Swiss-Prot 0 0 0 0 0 150 150
Mendelics 27 18 13 4 2 0 64
Institute of Human Genetics, University of Leipzig Medical Center 16 8 3 0 0 0 27
Athena Diagnostics Inc 25 0 0 0 0 0 25
LifeCell International Pvt. Ltd 5 6 7 0 0 0 18
Illumina Clinical Services Laboratory,Illumina 0 0 9 4 3 0 16
Baylor Genetics 2 4 8 0 0 0 14
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 11 1 0 0 0 12
Génétique des Maladies du Développement, Hospices Civils de Lyon 7 4 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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 4 0 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
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 1 0 0 0 5
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 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
VIB - Center for Molecular Neurology,University of Antwerp 0 2 0 0 0 0 2
New York Genome Center 0 0 2 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
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
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
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 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

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