ClinVar Miner

Variants in gene XPC

See also:
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
58 50 114 112 40 30 341

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Xeroderma pigmentosum, group C 32 41 105 7 18 0 196
not provided 34 10 7 105 22 0 177
not specified 0 0 1 1 18 30 44
Xeroderma pigmentosum 13 1 4 0 0 0 18
Xeroderma pigmentosum group A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 10 0 104 21 0 166
Illumina Clinical Services Laboratory,Illumina 0 0 73 6 18 0 97
Counsyl 16 39 32 1 0 0 88
ITMI 0 0 0 0 0 30 30
Integrated Genetics/Laboratory Corporation of America 13 1 1 0 6 0 21
PreventionGenetics, PreventionGenetics 1 0 1 1 15 0 18
OMIM 10 0 0 0 0 0 10
Baylor Genetics 2 0 7 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 5 0 3 1 0 0 9
Medical Molecular Genetics Department, National Research Center 9 0 0 0 0 0 9
Claritas Genomics 5 0 0 0 3 0 8
Mendelics 0 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
GeneDx 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 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
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 1

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