ClinVar Miner

Variants studied for Dyskeratosis congenita, X-linked

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 not provided total
45 3 0 3 0 23 53

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic likely benign not provided total
DKC1 45 3 3 23 53

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic likely benign not provided total
GeneReviews 36 0 0 0 36
UniProtKB/Swiss-Prot 0 0 0 22 22
OMIM 15 0 0 0 15
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 0 2
Baylor Genetics 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 0 1
Degerman lab,Umeå University 1 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies 0 0 0 1 1
Godley laboratory, The University of Chicago 0 1 0 0 1

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