ClinVar Miner

Variants studied for xeroderma pigmentosum

Included ClinVar conditions (18):
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
198 219 1107 423 202 12 1991

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ERCC4 29 12 379 214 50 1 649
XPC 46 85 121 27 30 1 280
ERCC2 30 25 104 38 14 2 190
POLH 19 7 110 31 34 5 188
XPA 28 56 53 12 5 3 139
BIVM-ERCC5, ERCC5 17 9 72 20 25 0 131
ERCC3 12 13 70 32 14 0 124
POLH, POLR1C 2 0 63 5 6 0 75
ERCC4, LOC130058543 4 0 37 16 1 0 57
DDB2 6 1 35 10 4 0 53
LOC129936244, XPC 1 5 15 2 3 0 24
BIVM-ERCC5, ERCC5, LOC126861834 3 5 14 0 2 0 20
TMEM43, XPC 0 0 1 13 10 0 20
DDB2, LOC126861205 0 1 9 1 1 0 11
ERCC2, KLC3 0 0 8 2 1 0 11
LOC129996521, POLH 0 0 8 0 2 0 10
LOC129996520, POLH 0 0 4 0 0 0 4
ERCC1 0 0 2 0 0 0 2
ERCC4, LOC130058543, LOC130058544 1 0 0 0 0 0 1
ERCC4, MIR193B, MIR365A, MRTFB, PARN 0 0 1 0 0 0 1
LOC129996521, POLH, POLR1C 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 5 4 602 96 152 0 855
Labcorp Genetics (formerly Invitae), Labcorp 30 3 307 202 26 0 568
Sema4, Sema4 2 8 150 119 12 0 291
Counsyl 19 73 52 1 1 0 146
Baylor Genetics 45 70 16 0 0 0 131
Fulgent Genetics, Fulgent Genetics 17 11 52 18 2 0 100
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 47 37 0 0 0 0 84
OMIM 69 0 0 0 0 0 69
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 15 36 0 52
Genome-Nilou Lab 0 0 0 0 49 0 49
Mendelics 7 2 7 11 7 0 34
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 3 7 7 0 18
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 2 5 7 0 15
Revvity Omics, Revvity 2 3 9 0 0 0 14
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 13 0 0 0 14
3billion 8 1 3 1 0 0 13
GeneReviews 1 0 0 0 0 11 12
Medical Molecular Genetics Department, National Research Center 12 0 0 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 4 2 1 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 7 1 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 2 4 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 0 0 0 0 7
Claritas Genomics 6 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 5
MGZ Medical Genetics Center 2 2 0 0 0 0 4
DNA Repair Laboratory, Institute of Biomedical Sciences - University of Sao Paulo 4 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 1 0 4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 4 0 0 0 0 0 4
Reproductive Health Research and Development, BGI Genomics 0 1 3 0 0 0 4
Myriad Genetics, Inc. 2 1 1 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 3 0 1 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 1 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Genetic Diagnostic Laboratory, University of Szeged 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 1 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 1 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 2 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 1 0 0 0 2
Dr.Nikuei Genetic Center 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
StellarGene Technologies Pvt. Ltd. 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 0 0 0 0 0 1

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