ClinVar Miner

Variants studied for Alexander disease

Included ClinVar conditions (1):
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
111 4 9 4 0 126

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
GFAP 111 4 9 4 126

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
GeneReviews 110 0 0 0 110
OMIM 13 0 0 0 13
Mendelics 2 1 1 1 5
Illumina Clinical Services Laboratory,Illumina 0 0 2 2 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 2
Baylor Genetics 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Simons Lab, The University of Queensland 0 1 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Laboratory for Animal Genetics,Ghent University 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 1 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 0 0 1 1

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