ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.320T>G (p.Leu107Arg)

dbSNP: rs33941844
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000016746 SCV000037016 other HEMOGLOBIN TERRE HAUTE 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016747 SCV000037017 pathogenic Beta-plus-thalassemia 1991-03-25 no assertion criteria provided literature only

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.