Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626951 | SCV000747654 | likely pathogenic | Visual impairment; Retinal dystrophy; Color vision defect; Horizontal nystagmus | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics in Ophthalmology, |
RCV001261186 | SCV001438585 | pathogenic | Leber congenital amaurosis 6 | no assertion criteria provided | research |