ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.232C>G (p.His78Asp)

dbSNP: rs33991294
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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985739 SCV001134216 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000985739 SCV004564622 likely benign not provided 2023-10-25 criteria provided, single submitter clinical testing
OMIM RCV000016417 SCV000036685 other HEMOGLOBIN J (IRAN) 2017-12-12 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.