ClinVar Miner

Variants studied for Epilepsy, familial focal, with variable foci 2

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
5 11 20 0 0 1 34

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
NPRL2 5 7 18 1 28
NPR2, SPAG8 0 3 1 0 4
CLCN2 0 0 1 0 1
NPR2 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Revvity Omics, Revvity 0 0 6 0 6
OMIM 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 1 0 4
Baylor Genetics 0 0 2 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 2
New York Genome Center 0 1 1 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Mendelics 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 1

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