Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eye Genetics Research Group, |
RCV000664187 | SCV000599466 | likely pathogenic | Cone dystrophy | no assertion criteria provided | clinical testing | ||
OMIM | RCV001372429 | SCV001569085 | pathogenic | Leber congenital amaurosis 9 | 2021-04-09 | no assertion criteria provided | literature only |