Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Medical Genetics and Human Genetics, |
RCV001252620 | SCV004037171 | likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | criteria provided, single submitter | not provided | ||
Centre de Biologie Pathologie Génétique, |
RCV001252620 | SCV001428380 | likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2019-01-01 | no assertion criteria provided | clinical testing |