Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000504724 | SCV000598898 | likely pathogenic | Retinal dystrophy | 2015-01-01 | no assertion criteria provided | research | |
NIHR Bioresource Rare Diseases, |
RCV000504914 | SCV000598899 | likely pathogenic | Abnormality of the eye | 2015-01-01 | no assertion criteria provided | research | Undetermined rare ocular disorder with frequency of less than eight patients |
Genomics England Pilot Project, |
RCV001542630 | SCV001760525 | likely pathogenic | Choroideremia | no assertion criteria provided | clinical testing |