Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Tartaglia Lab, |
RCV000754384 | SCV000786633 | likely pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2018-04-01 | criteria provided, single submitter | research | |
OMIM | RCV000754384 | SCV000883066 | pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2019-02-13 | no assertion criteria provided | literature only |