Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003453009 | SCV004183386 | pathogenic | Ornithine carbamoyltransferase deficiency | 2022-05-30 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderated |
Gen |
RCV000083356 | SCV000115442 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |