Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001187615 | SCV001354465 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-03-22 | criteria provided, single submitter | clinical testing | This variant is located in the 3' untranslated region of the SMAD3 gene. To our knowledge, functional studies have not been reported for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/282704 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Prevention |
RCV004538420 | SCV004730496 | likely benign | SMAD3-related disorder | 2021-04-01 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Breakthrough Genomics, |
RCV004695133 | SCV005193899 | uncertain significance | not provided | criteria provided, single submitter | not provided |