Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Al Jalila Children's Genomics Center, |
RCV002508801 | SCV002818266 | pathogenic | not provided | 2022-12-17 | criteria provided, single submitter | clinical testing | |
Biomedical Innovation Departament, |
RCV001310294 | SCV001500029 | pathogenic | Netherton syndrome | 2020-02-01 | no assertion criteria provided | research |