Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408479 | SCV000281915 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001075418 | SCV001241041 | likely pathogenic | Retinal dystrophy | 2018-08-06 | criteria provided, single submitter | clinical testing | |
Sharon lab, |
RCV001002819 | SCV001160834 | pathogenic | Stargardt disease | 2019-06-23 | no assertion criteria provided | research |