Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Paris Brain Institute, |
RCV001290422 | SCV001763705 | pathogenic | Pontocerebellar hypoplasia type 1A | criteria provided, single submitter | clinical testing | ||
Groupe Hospitalier Pitie Salpetriere, |
RCV001290422 | SCV001478444 | likely pathogenic | Pontocerebellar hypoplasia type 1A | no assertion criteria provided | clinical testing |