ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.659G>A (p.Arg220His)

gnomAD frequency: 0.00418  dbSNP: rs144010323
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
Invitae RCV000533005 SCV000655351 benign STING-associated vasculopathy with onset in infancy 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263802 SCV002543055 benign Autoinflammatory syndrome 2019-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431113 SCV004164241 benign not provided 2022-06-01 criteria provided, single submitter clinical testing STING1: BS1, BS2

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.