ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5066-15_5066-14del

dbSNP: rs3833018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525250 SCV001735299 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-01-04 criteria provided, single submitter clinical testing This variant deletes two nucleotides at the -15 position in intron 41 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 cardiovascular disorders in the literature. This variant has been identified in 1/250872 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002070321 SCV002490292 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-16 criteria provided, single submitter clinical testing

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