Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001521502 | SCV001730859 | benign | Ornithine carbamoyltransferase deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001521502 | SCV004357051 | likely benign | Ornithine carbamoyltransferase deficiency | 2022-04-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948552 | SCV004759647 | likely benign | OTC-related disorder | 2019-04-25 | 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). |