Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003325556 | SCV004031539 | uncertain significance | not provided | 2023-02-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with Leber congenital amaurosis (Safieh et al., 2016); This variant is associated with the following publications: (PMID: 34426522, 29061346, 26957854) |
Laboratory of Genetics in Ophthalmology, |
RCV001250878 | SCV001426370 | likely pathogenic | Leber congenital amaurosis 1 | no assertion criteria provided | research |