Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sharon lab, |
RCV001003145 | SCV001161214 | likely pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research | |
Leiden Open Variation Database | RCV001530230 | SCV001744967 | pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Global Variome, with Curator vacancy, Julia Lopez, Manon Peeters. |