Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ocular Genomics Institute, |
RCV001376301 | SCV001573395 | likely pathogenic | Rod-cone dystrophy | 2021-04-08 | criteria provided, single submitter | research | The INPP5E c.[746C>T; 1787G>C] 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: PM1, PM2, PP3, PP1. Based on this evidence we have classified this variant as Likely Pathogenic. |