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
30 6 2 0 0 37

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ERCC6 24 5 2 30
ERCC6, ERCC6-PGBD3 4 1 0 5
ERCC6, ERCC6-PGBD3, PGBD3 2 0 0 2

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
Claritas Genomics 16 5 0 21
OMIM 7 0 1 8
Genetic Services Laboratory, University of Chicago 6 0 0 6
Baylor Miraca Genetics Laboratories, 3 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 1 3
Institute of Human Genetics,Cologne University 1 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 1

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