ClinVar Miner

Variants studied for Epilepsy, early-onset, with or without developmental delay

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
6 4 22 0 1 32

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
SETD1A 6 4 22 1 32

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance benign total
New York Genome Center 0 0 9 0 9
OMIM 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 2
Baylor Genetics 0 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
MGZ Medical Genetics Center 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 1
3billion 0 0 1 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 1

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