Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Unité médicale des maladies autoinflammatoires, |
RCV000083889 | SCV000115995 | not provided | Hyperimmunoglobulin D with periodic fever | no assertion provided | not provided | ||
Genome Diagnostics Laboratory, |
RCV001701744 | SCV001928515 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001701744 | SCV001953482 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |