Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725185 | SCV000334735 | likely pathogenic | not provided | 2015-09-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000314247 | SCV000807295 | likely pathogenic | Severe myoclonic epilepsy in infancy | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000725185 | SCV001822952 | pathogenic | not provided | 2020-02-03 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This substitution is predicted to be in the cytoplasmic loop between first and second homologous domains; Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 31864146, 29056246, 22848613, 25326635, 24776920, 17347258, 23891399) |