ClinVar Miner

Variants studied for Wiedemann-Rautenstrauch syndrome

Included ClinVar conditions (1):
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
18 22 3 0 0 27

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
POLR3A 18 22 3 27

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 15 0 15
OMIM 13 0 0 13
University of Washington Center for Mendelian Genomics, University of Washington 0 10 0 10
Cole/Wambach Lab,Washington University in St. Louis 9 1 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 2
Kasturba Medical College, Manipal University 1 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1
DESAM Institute,Near East University 1 0 0 1

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