Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001842268 | SCV002102471 | uncertain significance | Macrogyria; Cerebral ischemia; Moderate global developmental delay; Hypotonia | 2022-03-01 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PM1_SUP, PM2_SUP, PP3 |