Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetics, |
RCV001270351 | SCV001450577 | likely pathogenic | Retinitis pigmentosa | criteria provided, single submitter | clinical testing | The variants is not found in population databases, same amino acid change has been previously reported pathogenic and predicted deleterious by in-silico pathogenicity predictors . (ACMG: PS1 Strong; PM2 Moderate; PP3 Supporting) |