ClinVar Miner

Variants studied for Xeroderma pigmentosum, group F

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
3 3 115 30 37 185

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ERCC4 3 3 108 30 36 177
ERCC4, LOC130058543 0 0 7 0 1 8

Submitter and significance breakdown #

Total submitters: 13
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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
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

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