Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002218381 | SCV002370274 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2020-12-28 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004005302 | SCV004820538 | uncertain significance | Marfan syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing | This variant causes a C to A nucleotide substitution at the -8 position of intron 23 of the FBN1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with FBN1-related disorders in the literature. This variant has not been identified 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. |