Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523519 | SCV000619493 | uncertain significance | not provided | 2023-06-26 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be in the cytoplasmic loop between the first and second homologous domains; This variant is associated with the following publications: (PMID: 30653559) |
Invitae | RCV000696248 | SCV000824800 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-10-13 | criteria provided, single submitter | clinical testing |