ClinVar Miner

Variants studied for xeroderma pigmentosum group D

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 not provided total
22 14 89 17 11 2 146

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
ERCC2 22 14 80 15 10 2 134
ERCC2, KLC3 0 0 7 2 1 0 10
ERCC1 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 3 78 8 9 0 99
Fulgent Genetics, Fulgent Genetics 5 2 10 6 0 0 23
OMIM 10 0 0 0 0 0 10
Mendelics 3 0 2 2 1 0 8
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 5 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Baylor Genetics 1 1 1 0 0 0 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 3 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
3billion 0 0 0 1 0 0 1

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