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 52 42 7 17 3 134

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 51 42 5 4 3 118
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 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
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
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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