ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.315+81C>T

gnomAD frequency: 0.10445  dbSNP: rs7946748
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000860792 SCV000603889 benign not provided 2020-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000860792 SCV001000946 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000736021 SCV001749123 benign beta Thalassemia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000860792 SCV001898218 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000860792 SCV005323383 benign not provided criteria provided, single submitter not provided
College of Science, Al Muthanna University, Al Muthanna University RCV000736021 SCV000864064 benign beta Thalassemia 2018-01-01 no assertion criteria provided research
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000736021 SCV001244409 benign beta Thalassemia 2019-11-25 no assertion criteria provided curation
Natera, Inc. RCV000736021 SCV001453773 benign beta Thalassemia 2020-09-16 no assertion criteria provided 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.