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 not provided total
53 20 233 257 74 6 597

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 42 6 17 237 45 1 336
Xeroderma pigmentosum variant type 20 13 149 19 38 5 231
Xeroderma pigmentosum 3 1 28 20 3 0 54
Inborn genetic diseases 1 0 48 4 0 0 53
not specified 0 0 8 2 5 0 14
POLH-related disorder 1 0 0 6 1 0 8
Malignant tumor of breast 0 0 0 0 1 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 39 6 8 219 24 0 296
Illumina Laboratory Services, Illumina 0 1 157 19 38 0 215
Ambry Genetics 1 0 48 4 0 0 53
GeneDx 1 0 6 13 24 0 44
Sema4, Sema4 0 0 11 18 2 0 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 8 2 2 0 15
Fulgent Genetics, Fulgent Genetics 2 8 4 1 0 0 15
CeGaT Center for Human Genetics Tuebingen 1 0 2 9 2 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 3 10 0 0 13
OMIM 12 0 0 0 0 0 12
PreventionGenetics, part of Exact Sciences 1 0 0 6 5 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 2 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 0 1 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
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
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.