ClinVar Miner

Variants in gene POLH

See also:
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
20 3 112 19 9 159

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Xeroderma pigmentosum 0 0 110 19 6 135
Xeroderma pigmentosum, variant type 18 3 3 1 1 24
not specified 0 0 0 0 4 4
Inborn genetic diseases 1 0 0 0 0 1
not provided 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 111 19 6 137
OMIM 12 0 0 0 0 12
GeneReviews 6 0 0 0 0 6
PreventionGenetics 0 0 0 0 4 4
DNA Repair Laboratory,Institute of Biomedical Sciences - University of Sao Paulo 2 0 0 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
GeneDx 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 1
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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