Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003141768 | SCV003819329 | pathogenic | not provided | 2023-01-24 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV000786008 | SCV000924648 | pathogenic | Early-onset retinal dystrophy | 2017-12-13 | no assertion criteria provided | research | |
Laboratory of Genetics in Ophthalmology, |
RCV001250630 | SCV001425501 | likely pathogenic | Leber congenital amaurosis 8 | no assertion criteria provided | research |