Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics, |
RCV001376656 | SCV001478001 | likely pathogenic | Global developmental delay; Seizure | 2021-01-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV002246279 | SCV002520564 | pathogenic | Parenti-mignot neurodevelopmental syndrome | 2022-05-07 | no assertion criteria provided | literature only |