Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000664329 | SCV000599715 | pathogenic | Coffin-Siris syndrome 1 | 2017-09-14 | criteria provided, single submitter | research | De novo missense variant in DPF2 identified in a male patient with developmental delay, speech impairment, intellectual disability, short stature, behavioral anomalies, brachydactyly of the fifth finger and hypoplasia of the fifth toenail. |
OMIM | RCV000656717 | SCV000778857 | pathogenic | Coffin-Siris syndrome 7 | 2018-06-28 | no assertion criteria provided | literature only |