ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.408del (p.Glu137fs) (rs1554810506)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres RCV000614819 SCV000681418 likely pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-01-15 criteria provided, single submitter case-control Present in all affected individuals and absent in unaffected individuals from a single family.

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.