ClinVar Miner

Variants studied for radiation-induced disorder

Included ClinVar conditions (8):
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
40 55 57 8 7 161

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ERCC2 26 39 37 6 6 109
ERCC3 5 15 17 1 1 38
GTF2H5 5 1 2 0 0 8
ERCC1 2 0 0 0 0 2
CIROP 1 0 0 0 0 1
ERCC2, KLC3 0 0 0 1 0 1
HFE 0 0 1 0 0 1
MPLKIP 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 17 52 32 7 1 109
Baylor Genetics 2 2 23 0 0 27
OMIM 12 0 0 0 0 12
Genome-Nilou Lab 0 0 0 0 6 6
Istituto di Genetica Molecolare, National Research Council of Italy 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Molecular Metabolic laboratory, Sheba Medical Center Tel-Hashomer 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
3billion, Medical Genetics 0 0 0 1 0 1

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