ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter)

dbSNP: rs200386310
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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490389 SCV000267516 likely pathogenic Hereditary spherocytosis type 2 2016-03-18 criteria provided, single submitter reference population

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.