Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146701 | SCV000194016 | pathogenic | Cornelia de Lange syndrome 1 | 2013-02-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001564728 | SCV001787935 | pathogenic | not provided | 2020-12-24 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16770807, 23254390, 15591270, 20824775, 24038889, 28425213) |
Developmental and Behavioral Pediatrics, |
RCV000146701 | SCV003838976 | likely pathogenic | Cornelia de Lange syndrome 1 | no assertion criteria provided | clinical testing |