Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV003114252 | SCV003798487 | likely pathogenic | Vitelliform macular dystrophy 3 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085019 | SCV000117155 | not provided | not provided | no assertion provided | not provided | ||
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132580 | SCV000172523 | pathogenic | Retinitis pigmentosa | no assertion criteria provided | not provided | Converted during submission to Pathogenic. | |
Leiden Open Variation Database | RCV000085019 | SCV001745110 | likely pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |