Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002510770 | SCV002821017 | pathogenic | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | AK2: PVS1:Strong, PM2, PP4:Moderate, PM3:Supporting, PP1 |
OMIM | RCV000019916 | SCV000040214 | pathogenic | Reticular dysgenesis | 2009-01-01 | no assertion criteria provided | literature only |