ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy 4

Coded as:
Minimum submission review status: Collection method:
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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
49 18 6 5 0 75

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
STXBP1 44 18 6 5 70
CDKL5 1 0 0 0 1
CFAP157, NIBAN2, PTRH1, SH2D3C, STXBP1, TOR2A, TTC16 1 0 0 0 1
CFAP157, PTRH1, STXBP1, TTC16 1 0 0 0 1
LMX1B 1 0 0 0 1
LRSAM1, NIBAN2, STXBP1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
GeneReviews 10 0 0 0 10
Mendelics 5 3 1 0 9
Genetic Services Laboratory, University of Chicago 4 2 2 0 8
OMIM 7 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 2 0 0 7
Baylor Genetics 5 0 1 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 2 1 0 4
Fulgent Genetics,Fulgent Genetics 3 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 2
Blueprint Genetics 0 2 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 2
Wu Jinyu Laboratory, Institute of Genomic Medicine,Wenzhou Medical University 2 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 1
Clinical Cytogenetics Laboratory,London Health Science Centre 1 0 0 0 1

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