Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147856 | SCV000195330 | uncertain significance | Complex cortical dysplasia with other brain malformations 1 | 2014-04-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764099 | SCV000895063 | uncertain significance | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; Complex cortical dysplasia with other brain malformations 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genetics Institute, |
RCV000147856 | SCV001593198 | likely pathogenic | Complex cortical dysplasia with other brain malformations 1 | 2021-05-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001550956 | SCV001771366 | pathogenic | not provided | 2021-11-05 | criteria provided, single submitter | clinical testing | Observed previously in a deceased fetus with a complex brain malformation and dysmorphic features and was inherited from a mother with abnormal brain imaging (Reches et al., 2018); Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32169460, 30108342, 20829227) |