ClinVar Miner

Variants studied for Spinocerebellar ataxia 49

Coded as:
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
1 1 4 0 0 6

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SAMD9L 1 1 4 6

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 1
3billion 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 1
Solve-RD Consortium 0 1 0 1

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