Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000616225 | SCV000730217 | likely benign | not specified | 2017-10-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000634849 | SCV000756198 | benign | Ornithine carbamoyltransferase deficiency | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000634849 | SCV002799425 | likely benign | Ornithine carbamoyltransferase deficiency | 2022-04-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003334019 | SCV004042389 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | OTC: BS1 |
Prevention |
RCV003917964 | SCV004737082 | likely benign | OTC-related disorder | 2022-02-19 | 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, |
RCV000634849 | SCV002087158 | benign | Ornithine carbamoyltransferase deficiency | 2019-12-09 | no assertion criteria provided | clinical testing |