Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000203002 | SCV000257761 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2015-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000203002 | SCV004304229 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2024-01-12 | criteria provided, single submitter | clinical testing | This variant, c.5456_5461dup, results in the insertion of 2 amino acid(s) of the MYH11 protein (p.Phe1819_Lys1820dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 218496). 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. |