Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003238824 | SCV003936470 | pathogenic | not provided | 2023-06-29 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24860126) |
Biochemical Molecular Genetic Laboratory, |
RCV000985023 | SCV001132956 | uncertain significance | Complex cortical dysplasia with other brain malformations 7 | 2019-08-25 | no assertion criteria provided | clinical testing |