Total submissions: 4
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, |
RCV002263799 | SCV002542565 | benign | Autoinflammatory syndrome | 2021-04-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437278 | SCV004164244 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | STING1: BP4, BS1, BS2 |
Prevention |
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). |