Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics |
RCV000626466 | SCV000746993 | pathogenic | Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | 2018-01-01 | criteria provided, single submitter | research |