Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074697 | SCV001240290 | likely pathogenic | Retinal dystrophy | 2019-04-02 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV000013901 | SCV001443237 | likely pathogenic | Retinitis pigmentosa 4 | 2020-09-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000013901 | SCV000034148 | pathogenic | Retinitis pigmentosa 4 | 1991-09-01 | no assertion criteria provided | literature only |