ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.659-12del

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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 RCV003529410 SCV004354304 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-05-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003529410 SCV004362314 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-10-09 criteria provided, single submitter clinical testing This variant deletes one nucleotide in intron 5 of the SMAD3 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SMAD3-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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