Variants studied for Xeroderma pigmentosum, group G

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	8	80	16	27	133

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	6	67	16	25	116
BIVM-ERCC5, ERCC5, LOC126861834	2	2	13	0	2	17

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	74	10	25	109
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
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	0	0	13	13
OMIM	10	0	0	0	0	10
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
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	0	1	1	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
3billion	0	0	1	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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	1

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