ClinVar Miner

Variants studied for alternating hemiplegia of childhood 2

Included ClinVar conditions (3):
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 3 0 0 46

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 3 46

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
GeneReviews 36 0 0 36
OMIM 9 0 0 9
Genetic Services Laboratory, University of Chicago 3 3 1 7
Fulgent Genetics 4 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 2
Baylor Miraca Genetics Laboratories, 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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 1

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