Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002539101 | SCV001012805 | likely benign | Pontocerebellar hypoplasia type 1A | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000871196 | SCV001466019 | likely benign | Congenital pontocerebellar hypoplasia type 1 | 2020-11-11 | no assertion criteria provided | clinical testing |