ClinVar Miner

Variants studied for Epilepsy, familial focal, with variable foci 3

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
104 38 391 239 30 2 791

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HBA-LCR, NPRL3 75 32 317 220 29 2 663
NPRL3 29 6 74 19 1 0 128

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 93 21 384 237 26 0 761
Institute of Human Genetics, University of Leipzig Medical Center 5 7 4 0 0 0 16
Revvity Omics, Revvity 1 1 6 0 0 0 8
OMIM 6 0 0 0 0 0 6
New York Genome Center 0 1 5 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 1 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Mendelics 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Department of Neurology lab, Tongji Hospital, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1 0 0 0 0 0 1

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