Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171490 | SCV000221689 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Laboratory of Genetics in Ophthalmology, |
RCV001250589 | SCV001425456 | pathogenic | Leber congenital amaurosis 7 | no assertion criteria provided | research | ||
Faculty of Health Sciences, |
RCV001257855 | SCV001434622 | pathogenic | Autosomal dominant retinitis pigmentosa | 2015-09-10 | no assertion criteria provided | literature only |