Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487237 | SCV000570570 | pathogenic | not provided | 2019-05-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32277047) |
Equipe Genetique des Anomalies du Developpement, |
RCV000850413 | SCV000992611 | likely pathogenic | Marfanoid habitus and intellectual disability | criteria provided, single submitter | research | ||
Ce |
RCV000487237 | SCV001153794 | uncertain significance | not provided | 2017-07-01 | criteria provided, single submitter | clinical testing |