ClinVar Miner

Variants studied for aniridia-cerebellar ataxia-intellectual disability syndrome

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 not provided total
13 0 2 0 0 1 16

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance not provided total
ITPR1 13 2 1 16

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance not provided total
OMIM 10 0 0 10
Fulgent Genetics 0 2 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 1
GenomeConnect, ClinGen 0 0 1 1
Laboratory of Molecular Pathology,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 1
Schule lab,Hertie Institute for Clinical Brain Research 1 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 1

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