ClinVar Miner

Variants studied for Epilepsy, familial focal, with variable foci 4

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
6 2 23 0 8 1 38

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
SCN3A 6 2 23 8 1 38

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Baylor Genetics 1 0 7 0 0 8
Genome-Nilou Lab 0 0 0 8 0 8
OMIM 4 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Mendelics 1 0 0 0 0 1
GeneReviews 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 1

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