Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000585179 | SCV000692918 | pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | USH1G: PVS1, PM2 |
Molecular Genetics Laboratory, |
RCV001199566 | SCV001162712 | pathogenic | Usher syndrome type 1 | 2020-01-09 | criteria provided, single submitter | research |