ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.92G>A (p.Arg31Lys) (rs33960103)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030006 SCV000052661 likely pathogenic beta Thalassemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506003 SCV000601332 likely pathogenic not provided 2018-12-07 criteria provided, single submitter clinical testing Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. One other pathogenic or likely pathogenic variant affects the same amino acid. Predicted to negatively affect a known splice site. Occurs in multiple cases with a recessive pathogenic variant in the same gene.
Counsyl RCV000030006 SCV000788510 likely pathogenic beta Thalassemia 2017-01-26 criteria provided, single submitter clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000030006 SCV001244509 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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.