Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036180 | SCV000059832 | likely pathogenic | Rare genetic deafness | 2008-03-01 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073537 | SCV001239084 | likely pathogenic | Retinal dystrophy | 2019-05-13 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001291607 | SCV001480168 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing |