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 not provided total
13 10 84 12 18 3 137

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VLDLR 11 10 84 11 15 3 131
LOC130001468, VLDLR 0 0 0 1 2 0 3
ATP8A2 1 0 0 0 0 0 1
LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, VLDLR 1 0 0 0 0 0 1
LOC130001471, VLDLR 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 69 11 14 0 94
OMIM 11 0 0 0 0 0 11
Revvity Omics, Revvity Omics 0 1 7 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Baylor Genetics 0 0 6 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 0 5
GeneReviews 0 0 0 0 0 3 3
3billion 0 3 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 1 0 0 0 0 1

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