Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000824524 | SCV000965424 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2022-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003226985 | SCV003923841 | uncertain significance | not provided | 2023-05-03 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be within the extracellular loop between the S5 and S6 transmembrane segments of the third homologous domain. |