ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Medical Genetics Ghent, University of Ghent and "benign" from any submitter

Minimum review status of the submission from Center for Medical Genetics Ghent, University of Ghent: Collection method of the submission from Center for Medical Genetics Ghent, University of Ghent:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031

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.