ClinVar Miner

Variants studied for autosomal recessive spinocerebellar ataxia 12

Included ClinVar conditions (4):
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
29 10 249 66 26 1 380

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 not provided total
WWOX 27 8 195 54 20 1 304
MAF, WWOX 2 0 51 12 6 0 71
LOC112486209, WWOX 0 2 1 0 0 0 3
LOC110120570, LOC112486209, WWOX 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 8 247 66 26 0 373
Fulgent Genetics,Fulgent Genetics 1 0 5 0 0 0 6
Baylor Genetics 1 0 3 0 0 0 4
OMIM 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 1

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