Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001372638 | SCV001569318 | uncertain significance | Koolen-de Vries syndrome | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003883619 | SCV004703389 | pathogenic | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | KANSL1: PVS1, PM2 |