ClinVar Miner

Variants studied for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Included ClinVar conditions (2):
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
7 1 75 11 14 108

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
VLDLR 6 1 75 11 14 107
ATP8A2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 69 11 14 94
Baylor Genetics 0 0 6 0 0 6
OMIM 4 0 0 0 0 4
GeneReviews 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 1 1 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1

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