ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn and "uncertain significance" from any submitter

Minimum review status of the submission from Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn: Collection method of the submission from Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001375524.1(TRRAP):c.5713A>G (p.Lys1905Glu) rs1791437854
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly) rs1135401770

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.