ClinVar Miner

Variants studied for Xeroderma pigmentosum, group C

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
46 86 115 11 40 1 280

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
XPC 45 81 102 9 30 1 251
LOC129936244, XPC 1 5 12 1 3 0 20
TMEM43, XPC 0 0 0 1 7 0 8
ERCC2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 0 69 7 25 0 103
Baylor Genetics 26 50 11 0 0 0 87
Counsyl 15 38 31 1 1 0 86
Genome-Nilou Lab 0 0 0 0 34 0 34
Fulgent Genetics, Fulgent Genetics 6 0 10 3 0 0 19
OMIM 10 0 0 0 0 0 10
Medical Molecular Genetics Department, National Research Center 9 0 0 0 0 0 9
Revvity Omics, Revvity 1 1 4 0 0 0 6
Claritas Genomics 5 0 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 0 1 0 0 5
Mendelics 0 1 2 0 1 0 4
Myriad Genetics, Inc. 1 1 1 0 0 0 3
3billion 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 1 1
DNA Repair Laboratory, Institute of Biomedical Sciences - University of Sao Paulo 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
StellarGene Technologies Pvt. Ltd. 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1

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