ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg)

gnomAD frequency: 0.11673  dbSNP: rs782650611
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000966419 SCV001113738 likely benign Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2025-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222180 SCV003917250 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ORAI1: BS1
Revvity Omics, Revvity RCV003222180 SCV004235684 uncertain significance not provided 2023-04-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905911 SCV004721402 likely benign ORAI1-related disorder 2020-05-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.