ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.374C>A (p.Pro125Gln) (rs33983276)

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
OMIM RCV000016632 SCV000036901 other HEMOGLOBIN TY GARD 2017-12-12 no assertion criteria provided literature only
OMIM RCV000641615 SCV000763257 pathogenic Erythrocytosis 6, familial 1978-04-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759072 SCV000888158 uncertain significance not provided 2017-12-12 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.