Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532561 | SCV000654979 | likely benign | Vasculitis due to ADA2 deficiency | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263798 | SCV002543368 | uncertain significance | Autoinflammatory syndrome | 2020-07-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003431109 | SCV004152062 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | ADA2: BP4, BP7 |
Prevention |
RCV003952860 | SCV004780233 | likely benign | ADA2-related disorder | 2022-02-01 | 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). |