Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073278 | SCV001238814 | likely pathogenic | Retinal dystrophy | 2018-10-15 | criteria provided, single submitter | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000083879 | SCV000115984 | not provided | Hyperimmunoglobulin D with periodic fever | no assertion provided | not provided |