ClinVar Miner

Variants studied for Xeroderma pigmentosum group A

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
27 51 41 7 17 3 132

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
XPA 27 50 41 5 4 3 116
XPC 0 1 0 2 11 0 14
LOC129936244, XPC 0 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 4 35 21 0 0 0 60
Baylor Genetics 17 19 2 0 0 0 38
Illumina Laboratory Services, Illumina 1 0 21 5 4 0 31
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 4 14 0 18
Fulgent Genetics, Fulgent Genetics 4 1 3 1 0 0 9
OMIM 7 0 0 0 0 0 7
Revvity Omics, Revvity 1 2 2 0 0 0 5
3billion 4 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Medical Molecular Genetics Department, National Research Center 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 2
Genetic Diagnostic Laboratory, University of Szeged 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Claritas Genomics 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Myriad Genetics, Inc. 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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