Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986404 | SCV001135401 | uncertain significance | Hajdu-Cheney syndrome | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001312091 | SCV001502537 | uncertain significance | not provided | 2021-01-01 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV003313982 | SCV004013920 | likely pathogenic | Alagille syndrome due to a NOTCH2 point mutation | 2023-05-17 | criteria provided, single submitter | clinical testing | PVS1, PM2 |