Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000002139 | SCV002518972 | pathogenic | Leber congenital amaurosis 13 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000002139 | SCV004208602 | pathogenic | Leber congenital amaurosis 13 | 2023-05-27 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002139 | SCV000022297 | pathogenic | Leber congenital amaurosis 13 | 2004-10-01 | no assertion criteria provided | literature only | |
Sharon lab, |
RCV001003155 | SCV001161226 | pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research | |
Laboratory of Genetics in Ophthalmology, |
RCV000002139 | SCV001432292 | pathogenic | Leber congenital amaurosis 13 | no assertion criteria provided | research |