Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV001730020 | SCV001976767 | pathogenic | ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2021-08-10 | criteria provided, single submitter | clinical testing | PVS1, PS2, PM2, PP3 |