ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.376C>A (p.Leu126Ile)

gnomAD frequency: 0.00363  dbSNP: rs142609349
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
Invitae RCV000540617 SCV000655346 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 RCV002263799 SCV002542565 benign Autoinflammatory syndrome 2021-04-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437278 SCV004164244 benign not provided 2024-02-01 criteria provided, single submitter clinical testing STING1: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003915631 SCV004731035 benign STING1-related disorder 2024-01-29 criteria provided, single submitter clinical testing This variant is classified as 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.