Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, |
RCV001264402 | SCV001442517 | uncertain significance | Helicoid peripapillary chorioretinal degeneration | 2020-11-10 | no assertion criteria provided | clinical testing | |
OMIM | RCV001264402 | SCV002600217 | pathogenic | Helicoid peripapillary chorioretinal degeneration | 2022-11-11 | no assertion criteria provided | literature only |