Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171339 | SCV000221536 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Center for Genomic Medicine, |
RCV000210435 | SCV004805114 | pathogenic | Leber congenital amaurosis 16 | 2024-03-17 | criteria provided, single submitter | research | |
OMIM | RCV000210435 | SCV000266502 | pathogenic | Leber congenital amaurosis 16 | 2016-03-31 | no assertion criteria provided | literature only |