Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002540172 | SCV001042889 | benign | Oxoglutaricaciduria | 2023-08-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003922921 | SCV004740217 | likely benign | OGDH-related disorder | 2021-09-22 | 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). |