Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000907218 | SCV001051908 | likely benign | Pyruvate dehydrogenase E2 deficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001660588 | SCV001881453 | likely benign | not provided | 2021-01-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977872 | SCV004787040 | likely benign | DLAT-related condition | 2022-02-09 | 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). |