Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Neurogenetics and Neuroinflammation, |
RCV001003356 | SCV001161469 | pathogenic | Aicardi-Goutieres syndrome 7 | 2019-06-11 | no assertion criteria provided | clinical testing | |
OMIM | RCV003234569 | SCV003928199 | pathogenic | Singleton-Merten syndrome 1 | 2023-05-31 | no assertion criteria provided | literature only |