Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Randwick Genomics Laboratory, |
RCV001810515 | SCV002059956 | pathogenic | 8q24.3 microdeletion syndrome | criteria provided, single submitter | clinical testing | PVS1, PS2, PM2 |