Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001471585 | SCV001675695 | likely benign | Citrin deficiency | 2021-07-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003978133 | SCV004798958 | likely benign | SLC25A13-related condition | 2023-05-22 | 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). |
Natera, |
RCV001277322 | SCV001464264 | uncertain significance | Late-onset citrullinemia | 2020-03-11 | no assertion criteria provided | clinical testing |