Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073279 | SCV001238815 | pathogenic | Retinal dystrophy | 2018-10-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001093083 | SCV001249897 | pathogenic | not provided | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001093083 | SCV001905649 | pathogenic | not provided | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001530385 | SCV001745194 | likely pathogenic | Vitelliform macular dystrophy 3 | 2020-12-01 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Andreas Laner. |