ClinVar Miner

Variants studied for Xeroderma pigmentosum, variant type

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
18 3 3 1 1 24

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLH 18 3 3 1 1 24

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 12 0 0 0 0 12
GeneReviews 6 0 0 0 0 6
DNA Repair Laboratory,Institute of Biomedical Sciences - University of Sao Paulo 2 0 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 1 1 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 0 1 2
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 1

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