ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.997G>T (p.Val333Phe)

dbSNP: rs1801212
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, Mass General Brigham Personalized Medicine RCV000155337 SCV000205023 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val333Phe in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 33.0% (61/184) of chromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs18 01212).

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.