Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000235423 | SCV000293221 | uncertain significance | not provided | 2023-06-14 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (gnomAD); Within the transmembrane domain (Lee et al., 2010; Sanmaneechai et al., 2015); The majority of missense variants in this gene are considered pathogenic; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20461396, 26310628) |