ClinVar Miner

Variants studied for pontocerebellar hypoplasia type 2A

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
7 4 14 1 7 1 32

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
TSEN54 7 4 14 1 6 1 31
LOC112533671, TSEN54 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 2 1 7 0 0 0 10
Baylor Genetics 2 0 5 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
3billion 1 0 0 1 0 0 2
OMIM 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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