Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
DBGen Ocular Genomics | RCV001587462 | SCV001815942 | pathogenic | Vitelliform macular dystrophy 3 | 2021-06-21 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001530257 | SCV001745006 | likely pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. Comment: Variant observed de novo. |