ClinVar Miner

Variants studied for cerebellar ataxia with peripheral neuropathy

Included ClinVar conditions (5):
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
21 1 24 7 11 60

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SIL1 11 0 24 7 7 45
FXN 8 1 0 0 1 10
CTDP1 1 0 0 0 3 4
FXN, LOC108510657 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 23 5 1 30
OMIM 19 1 0 0 0 20
Invitae 0 0 1 2 6 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 5 5
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1

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