Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655244 | SCV000777174 | likely benign | Adams-Oliver syndrome 5 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584514 | SCV001813543 | uncertain significance | not provided | 2020-08-05 | criteria provided, single submitter | clinical testing | Has not been previously reported as pathogenic or benign in association with connective tissue disorders or congenital heart defects to our knowledge; Identified in conjunction with additional variants in individuals referred for connective tissue disorder genetic testing at GeneDx; segregation data is limited or absent at this time; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 544174; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 25104330) |
Genome- |
RCV000655244 | SCV002553968 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270939 | SCV002553969 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |