Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188939 | SCV000242570 | pathogenic | not provided | 2023-07-19 | criteria provided, single submitter | clinical testing | This substitution is predicted to be within the intracellular loop between the S4 and S5 transmembrane segments of the third homologous domain.; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |