ClinVar Miner

Variants studied for Xeroderma pigmentosum, group G

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
12 5 81 16 27 131

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
BIVM-ERCC5, ERCC5 10 3 68 16 25 114
BIVM-ERCC5, ERCC5, LOC126861834 2 2 13 0 2 17

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 0 0 77 10 25 112
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 2 7 7 17
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 5 6 13
OMIM 10 0 0 0 0 10
Mendelics 1 0 1 2 1 5
Genome-Nilou Lab 0 0 0 0 2 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
3billion 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 1

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