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 not provided total
20 13 162 19 40 5 246

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POLH 20 13 150 19 38 5 232
LOC129996521, POLH 0 0 8 0 2 0 10
LOC129996520, POLH 0 0 4 0 0 0 4

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 153 17 39 0 210
Fulgent Genetics, Fulgent Genetics 2 8 4 1 0 0 15
OMIM 12 0 0 0 0 0 12
GeneReviews 1 0 0 0 0 5 6
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 0 4 0 5
Revvity Omics, Revvity 0 0 3 0 0 0 3
DNA Repair Laboratory, Institute of Biomedical Sciences - University of Sao Paulo 3 0 0 0 0 0 3
Mendelics 1 0 0 1 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 1 0 2
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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