ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2729-8C>A

dbSNP: rs775257418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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, National Institutes of Health 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.

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