Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000995112 | SCV001149115 | uncertain significance | not provided | 2018-10-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001199771 | SCV001162687 | pathogenic | Cone-rod dystrophy | 2020-01-09 | criteria provided, single submitter | research | |
Genome- |
RCV001800909 | SCV002045767 | likely pathogenic | Leber congenital amaurosis 6 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001800910 | SCV002045778 | likely pathogenic | Cone-rod dystrophy 13 | 2021-11-07 | criteria provided, single submitter | clinical testing |