Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001199622 | SCV001162386 | pathogenic | Isolated macular dystrophy | 2020-01-09 | criteria provided, single submitter | research | |
Institute of Medical Molecular Genetics, |
RCV001352943 | SCV001548010 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001450679 | SCV001654293 | likely benign | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing |