ClinVar Miner

Variants studied for Alternating hemiplegia of childhood 2

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
40 3 1 0 0 44

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ATP1A3 40 3 1 44

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
GeneReviews 35 0 0 35
OMIM 9 0 0 9
Genetic Services Laboratory, University of Chicago 3 3 1 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 2
Baylor Genetics 1 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 1
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 1 0 0 1

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