ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.1437C>T (p.Asn479=)

gnomAD frequency: 0.26684  dbSNP: rs2289274
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
GeneDx RCV001716779 SCV001939430 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Invitae RCV001716779 SCV002471540 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV003401645 SCV004102840 likely risk allele Associated with severe COVID-19 disease 2023-07-01 no assertion criteria provided research The allele G is a risk for non-surviving in patients with severe COVID-19

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.