ClinVar Miner

Variants studied for Pontocerebellar hypoplasia type 10

Coded as:
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Gene type:
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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 2 8 0 0 10

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CLP1 1 1 8 9
APLNR, BTBD18, CLP1, CTNND1, MED19, MIR130A, P2RX3, PRG2, PRG3, RTN4RL2, SELENOH, SERPING1, SLC43A1, SLC43A3, SMTNL1, SSRP1, TIMM10, TMX2, TNKS1BP1, UBE2L6, YPEL4, ZDHHC5 0 1 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
Baylor Genetics 0 0 5 5
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 1 0 1 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 2
OMIM 1 0 0 1
Revvity Omics, Revvity 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 1
Solve-RD Consortium 0 1 0 1

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