ClinVar Miner

Variants studied for Neurodevelopmental disorder with or without early-onset generalized epilepsy

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 total
13 19 86 6 0 123

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
NBEA 13 19 86 6 123

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Revvity Omics, Revvity 0 2 30 0 32
Neuberg Centre For Genomic Medicine, NCGM 0 0 15 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 8 0 11
3billion 0 4 4 2 10
New York Genome Center 0 1 6 0 7
OMIM 6 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 3 3 6
Baylor Genetics 2 0 3 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 2 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 2 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 1
MGZ Medical Genetics Center 0 0 1 0 1
Mendelics 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 1 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 1
DASA 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 1

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