Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wendy Chung Laboratory, |
RCV001007674 | SCV000999024 | likely pathogenic | CDC42BPB-related neurodevelopmental syndrome | 2019-09-10 | criteria provided, single submitter | research | |
Department of Genetics, |
RCV003127490 | SCV003803899 | likely pathogenic | Autism spectrum disorder | criteria provided, single submitter | clinical testing | ||
OMIM | RCV002249553 | SCV002520392 | pathogenic | Chilton-Okur-Chung neurodevelopmental syndrome | 2022-04-27 | no assertion criteria provided | literature only |