Variants studied for Xeroderma pigmentosum, group F

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
3	4	115	30	37	186

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ERCC4	3	4	108	30	36	178
ERCC4, LOC130058543	0	0	7	0	1	8

Submitter and significance breakdown #

Total submitters: 14

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	1	0	102	25	32	160
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	0	5	13	18
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	1	0	12	0	0	13
Mendelics	0	0	2	5	0	7
Genome-Nilou Lab	0	0	0	0	5	5
OMIM	2	0	0	0	0	2
MGZ Medical Genetics Center	0	2	0	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	0	2
Undiagnosed Diseases Network, NIH	1	1	0	0	0	2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	0	2	0	0	2
Baylor Genetics	1	0	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	1
Wangler Lab, Baylor College of Medicine	1	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.