ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-238C>T (rs558554234)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000248556 SCV000603924 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing
Hb Lab, Kinderklinik Ulm,University Hospital Ulm RCV000625739 SCV000693863 pathogenic beta Thalassemia 2018-03-08 no assertion criteria provided literature only Rare thalassemic variant that could cause severe Thalassemia (Major or intermedia) when associated with other more common beta0 thalassemic alleles.
PreventionGenetics RCV000248556 SCV000304633 likely benign not specified criteria provided, single submitter clinical testing

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.