Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073476 | SCV001239019 | pathogenic | Retinal dystrophy | 2019-03-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003133183 | SCV003810654 | likely pathogenic | not provided | 2021-12-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000210747 | SCV000266837 | pathogenic | Abortive cerebellar ataxia | 2016-08-18 | no assertion criteria provided | literature only |