ClinVar Miner

Submissions for variant NM_000111.3(SLC26A3):c.202C>T (p.Arg68Trp)

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
Royal Medical Services, Bahrain Defence Force Hospital RCV004577692 SCV005061389 uncertain significance Congenital secretory diarrhea, chloride type no assertion criteria provided clinical testing The SLC26A3 variant c.202C>T p.(Arg68Trp) causes an amino acid change from Arg to Trp at position 68 in exon(s) no. 3 (of 21). To the best of our knowledge this is a novel variant not previously reported in the literature. It is classified as variant of uncertain significance based on CENTOGENE's implementation of the ACMG/AMP/ClinGen SVI guidelines.

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.