Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001963937 | SCV002254681 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2021-11-21 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. This variant is present in population databases (rs543263157, gnomAD 0.007%). This sequence change falls in intron 36 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein. |
All of Us Research Program, |
RCV001963937 | SCV004832144 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-08-23 | criteria provided, single submitter | clinical testing |