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
285 39 125 104 54 150 708

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1A 158 21 8 1 2 72 240
LOC102724058, SCN1A 124 17 10 4 3 78 210
SCN1A, SCN9A 0 1 32 68 39 0 139
GABRG2 0 0 31 17 5 0 53
SNX27 3 0 37 8 0 0 48
SCN9A 0 0 7 6 5 0 18

Submitter and significance breakdown #

Total submitters: 25
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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
Illumina Clinical Services Laboratory,Illumina 0 0 69 91 49 0 209
UniProtKB/Swiss-Prot 0 0 0 0 0 150 150
Mendelics 27 19 12 4 2 0 64
Invitae 3 0 37 8 0 0 48
Athena Diagnostics Inc 25 0 0 0 0 0 25
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 11 1 0 0 0 12
OMIM 11 0 0 0 0 0 11
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 2 0 6
Neurogenetics Laboratory - MEYER,AOU Meyer 4 2 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 1 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
VIB - Center for Molecular Neurology,University of Antwerp 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1

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