ClinVar Miner

Variants studied for Pontocerebellar hypoplasia, type 1C

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 not provided total
2 2 9 1 1 1 14

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EXOSC8 2 2 6 1 1 1 11
EXOSC8, LOC130009581 0 0 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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