Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408557 | SCV000281819 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000408557 | SCV001440524 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2019-01-01 | criteria provided, single submitter | clinical testing |