ClinVar Miner

Variants studied for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

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
3 0 16 5 2 1 27

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
WDR81 3 16 5 2 1 27

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 1 11 0 0 0 12
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 4 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 3 1 0 0 5
OMIM 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1

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