Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Tartaglia Lab, |
RCV000754392 | SCV000786643 | likely pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2018-05-01 | criteria provided, single submitter | research | |
OMIM | RCV000754392 | SCV000883069 | pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2022-05-24 | no assertion criteria provided | literature only |