Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626730 | SCV000747433 | likely pathogenic | Severe photosensitivity; Macular dystrophy; Adult-onset night blindness | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001199233 | SCV001370270 | likely pathogenic | Retinitis pigmentosa 26 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. This variant was detected in homozygous state. |