Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986487 | SCV001135499 | uncertain significance | Leber congenital amaurosis 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759677 | SCV001985385 | uncertain significance | not provided | 2018-12-14 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29053603, 17724218) |
Genome- |
RCV003454999 | SCV004179901 | uncertain significance | Leber congenital amaurosis 8 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003455000 | SCV004179902 | uncertain significance | Pigmented paravenous retinochoroidal atrophy | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454998 | SCV004179904 | uncertain significance | Retinitis pigmentosa 12 | 2023-04-11 | criteria provided, single submitter | clinical testing |