Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000634723 | SCV000756061 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 12 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein. This variant is present in population databases (rs763316592, gnomAD 0.006%). This variant has been observed in individuals with an abdominal aortic aneurysm (PMID: 26017485). ClinVar contains an entry for this variant (Variation ID: 529326). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
Gene |
RCV000837955 | SCV000979818 | likely benign | not provided | 2018-04-06 | 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. |
Color Diagnostics, |
RCV001179805 | SCV001344587 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-01-22 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000837955 | SCV001714067 | uncertain significance | not provided | 2021-03-09 | criteria provided, single submitter | clinical testing |