ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy 6B

Coded as:
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
11 20 17 0 1 2 51

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
SCN1A 4 13 8 0 1 26
LOC102724058, SCN1A 7 7 9 1 1 25

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
3billion 2 4 4 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 2 8 0 0 10
Lifecell International Pvt. Ltd 0 4 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 1 0 4
OMIM 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Breda Genetics srl 1 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 1

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