Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000838700 | SCV000980578 | likely benign | not provided | 2018-04-26 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001858431 | SCV002318208 | uncertain significance | Supravalvar aortic stenosis | 2021-11-27 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 679060). This variant has not been reported in the literature in individuals affected with ELN-related conditions. This variant is present in population databases (rs782637446, gnomAD 0.003%). This sequence change falls in intron 25 of the ELN gene. It does not directly change the encoded amino acid sequence of the ELN protein. |