Table 3 The classification refers to ACMG guidelines
From: Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities
ACMG | Description of evidence | Classification results |
|---|---|---|
PVS1 | The pax6 gene in the clingen database (https://clinicalgenome.org/) was recorded with a single dose sensitive gene with a score of 3 . | Pathogenic variation |
PM2_Supporting | It is a rare variant, not included in the Genome Aggregation Database (gnomAD,https://gnomad.broadinstitute.org/about) East Asian database. | |
PP4 | The patient’s clinical symptoms and family history were anastomotic with PAX6 gene abnormality. |