Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001841027 | SCV001355218 | uncertain significance | Cardiac arrhythmia | 2018-12-10 | criteria provided, single submitter | clinical testing | Variant of Uncertain Significance due to insufficient evidence: This variant causes a deletion of 22 nucleotides in the 5' untranslated region of the KCNH2 gene. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively. |