Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502290 | SCV000596924 | likely pathogenic | Chromosome 2q32-q33 deletion syndrome | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584219 | SCV001813549 | pathogenic | not provided | 2020-01-14 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28139846, 29436146) |
Hudson |
RCV000502290 | SCV002762742 | pathogenic | Chromosome 2q32-q33 deletion syndrome | 2022-06-21 | criteria provided, single submitter | research | ACMG codes:PS2_Strong, PM1_Moderate, PM2_Moderate, PP2_Supporting, PP3_Supporting |