Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194772 | SCV000249222 | pathogenic | Pontocerebellar hypoplasia type 2A | 2015-08-06 | criteria provided, single submitter | clinical testing |