Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetics, |
RCV001270358 | SCV001450585 | uncertain significance | Retinitis pigmentosa | criteria provided, single submitter | clinical testing | Variant not found in population databases, missense variant in a gene that has a low rate of benign missense variation, predicted deletereous by in-silico pathogenicity predictors. (ACMG: PM2 Moderate, PP2 Supporting, PP3 Supporting). Found in trans with variant NM_206933:c.841A>C) |