Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000012713 | SCV000032948 | pathogenic | Mevalonic aciduria | 2005-03-01 | no assertion criteria provided | literature only | |
Unité médicale des maladies autoinflammatoires, |
RCV000083827 | SCV000115929 | not provided | Hyperimmunoglobulin D with periodic fever | no assertion provided | not provided |