Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV001808133 | SCV002058642 | pathogenic | Retinitis pigmentosa 19 | 2022-01-03 | criteria provided, single submitter | clinical testing | Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS).The variant has been reported to be associated with ABCA4 related disorder (3billion dataset). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Ophthalmo- |
RCV002468642 | SCV002764645 | pathogenic | Stargardt disease | 2022-12-19 | no assertion criteria provided | research | PVS1,PM2,PP5 |