Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001199353 | SCV001370452 | pathogenic | Congenital stationary night blindness 2A | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. This variant was detected in hemizygous state. The following ACMG criteria were used in classification PVS1, PM2, PM3_MOD. |
Centre for Mendelian Genomics, |
RCV000415143 | SCV000492682 | likely pathogenic | Myopia; Amblyopia | 2016-01-11 | no assertion criteria provided | clinical testing |