ClinVar Miner

Variants studied for DKC1-related disorder

Included ClinVar conditions (4):
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
47 5 170 44 13 23 278

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 not provided total
ACD 2 1 109 27 10 0 147
DCLRE1B 0 0 60 14 3 0 77
DKC1 45 4 1 3 0 23 54

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 167 41 13 0 221
GeneReviews 40 0 0 0 0 0 40
UniProtKB/Swiss-Prot 0 0 0 0 0 22 22
OMIM 16 0 0 0 0 0 16
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 2 0 0 4
Baylor Genetics 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Degerman lab,Umeå University 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Godley laboratory, The University of Chicago 0 1 0 0 0 0 1

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