Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000895212 | SCV001039241 | benign | STING-associated vasculopathy with onset in infancy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264065 | SCV002543062 | likely benign | Autoinflammatory syndrome | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438565 | SCV004164240 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | STING1: BS2 |
Prevention |
RCV003910660 | SCV004719955 | likely benign | STING1-related disorder | 2019-04-16 | criteria provided, single submitter | 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). |