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
59 12 384 303 55 1 808

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WWOX 51 11 301 251 46 1 656
MAF, WWOX 6 0 80 52 9 0 146
LOC112486209, LOC132090435, WWOX 1 1 0 0 0 0 2
LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC110120570, LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 53 10 381 301 52 0 797
Genome-Nilou Lab 0 0 0 0 38 0 38
Fulgent Genetics, Fulgent Genetics 2 0 11 2 1 0 16
Baylor Genetics 1 0 3 0 0 0 4
OMIM 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1

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