Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000625942 | SCV000746533 | uncertain significance | Occult macular dystrophy | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198794 | SCV001369789 | likely pathogenic | Retinitis pigmentosa 88 | 2020-03-21 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM4. |