Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001290424 | SCV001478410 | pathogenic | Intellectual disability | no assertion criteria provided | clinical testing | ||
OMIM | RCV001431527 | SCV001634285 | pathogenic | Coffin-Siris syndrome 12 | 2021-05-20 | no assertion criteria provided | literature only |