Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000114961 | SCV000148871 | pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2014-04-03 | no assertion criteria provided | literature only | |
NIHR Bioresource Rare Diseases, |
RCV001003579 | SCV001161956 | pathogenic | Intellectual disability | no assertion criteria provided | research |