Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001312098 | SCV001502546 | likely pathogenic | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000984543 | SCV004027829 | pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 2023-05-09 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS2_MOD,PS4_MOD,PM2_SUP |
OMIM | RCV000984543 | SCV001132602 | pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 2019-12-20 | no assertion criteria provided | literature only |