Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
INSERM U1051, |
RCV001249875 | SCV001424150 | likely pathogenic | Retinitis pigmentosa | 2020-06-24 | criteria provided, single submitter | research | |
DBGen Ocular Genomics | RCV001587287 | SCV001816088 | likely pathogenic | Leber congenital amaurosis 8 | 2021-06-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001587287 | SCV004179930 | likely pathogenic | Leber congenital amaurosis 8 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449804 | SCV004179931 | likely pathogenic | Retinitis pigmentosa 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001587287 | SCV004211122 | likely pathogenic | Leber congenital amaurosis 8 | 2023-10-09 | criteria provided, single submitter | clinical testing |