Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652342 | SCV000774212 | benign | STING-associated vasculopathy with onset in infancy | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263911 | SCV002543046 | benign | Autoinflammatory syndrome | 2021-06-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945669 | SCV004759068 | benign | STING1-related disorder | 2024-01-28 | 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). |