Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000850499 | SCV000992699 | likely pathogenic | MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome | 2018-10-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225750 | SCV002504077 | pathogenic | not provided | 2022-07-08 | criteria provided, single submitter | clinical testing | Published functional studies in a mouse model demonstrate L1 syndrome phenotype; mouse neurons had reduced outgrowth, migration, and survival (Loers et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); 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: 25934484, 25644381, 31216405, 32404617, 26891472, 25641508, 33484186) |