Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415352 | SCV000492720 | uncertain significance | Nystagmus; Abnormal electroretinogram | 2014-07-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000487886 | SCV000575086 | uncertain significance | not provided | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001078961 | SCV001098551 | likely benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198299 | SCV001369183 | uncertain significance | Choroidal dystrophy, central areolar, 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. This variant was inherited from a parent. |
Prevention |
RCV004748751 | SCV005359837 | uncertain significance | GUCY2D-related disorder | 2024-09-06 | no assertion criteria provided | clinical testing | The GUCY2D c.1315G>A variant is predicted to result in the amino acid substitution p.Gly439Arg. This variant was reported in an individual with Familial exudative vitreoretinopathy & high myopia (Supplemental Table 2, Wang et al. 2019. PubMed ID: 31106028). This variant is reported in 0.23% of alleles in individuals of South Asian descent in gnomAD. Although we suspect this variant may be benign, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |