ClinVar Miner

Variants studied for xeroderma pigmentosum group G

Included ClinVar conditions (3):
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
18 21 98 18 27 166

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 16 16 82 18 25 145
BIVM-ERCC5, ERCC5, LOC126861834 2 5 16 0 2 21

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 77 10 25 112
Fulgent Genetics, Fulgent Genetics 3 12 22 2 1 40
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 2 7 7 17
OMIM 14 0 0 0 0 14
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 5 6 13
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 13 13
Mendelics 1 0 1 2 1 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 1 0 0 3
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
3billion, Medical Genetics 0 0 1 0 0 1

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