ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1448-3T>A (rs1555687536)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000603516 SCV000712637 uncertain significance not specified 2016-11-22 criteria provided, single submitter clinical testing The c.1448-3T>A variant in SMAD4 has not been previously reported in individuals with SMAD4-associated diseases or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathog enicity. In summary, the clinical significance of the c.1448-3T>A variant is unc ertain.

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.