Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ocular Genomics Institute, |
RCV001376507 | SCV001573680 | likely pathogenic | Retinitis pigmentosa 49 | 2021-04-08 | criteria provided, single submitter | research | The CNGA1 c.1923_1924insT variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. |