Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory - |
RCV000824687 | SCV000930700 | pathogenic | Coffin-Siris syndrome 5 | 2019-07-10 | criteria provided, single submitter | clinical testing | |
Duke University Health System Sequencing Clinic, |
RCV000824687 | SCV003919001 | pathogenic | Coffin-Siris syndrome 5 | 2023-04-20 | criteria provided, single submitter | research |