Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UCLA Clinical Genomics Center, |
RCV000197443 | SCV000255342 | likely pathogenic | Intellectual developmental disorder with autism and macrocephaly | 2014-05-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003311713 | SCV004010262 | pathogenic | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | CHD8: PVS1, PM2, PM6, PS4:Moderate |