ClinVar Miner

Variants studied for Cockayne syndrome B

Coded as:
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
31 9 127 11 15 191

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 total
ERCC6 24 6 100 8 14 150
ERCC6, ERCC6-PGBD3 5 3 18 2 1 29
ERCC6, ERCC6-PGBD3, PGBD3 2 0 9 1 0 12

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 125 11 15 151
Claritas Genomics 16 5 0 0 0 21
OMIM 7 0 1 0 0 8
Genetic Services Laboratory,University of Chicago 6 0 0 0 0 6
Baylor Genetics 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 3
Service de Génétique Moléculaire,Hôpital Robert Debré 2 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1

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