ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.*3C>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004014850 SCV004828304 uncertain significance Loeys-Dietz syndrome 2 2023-05-30 criteria provided, single submitter clinical testing This variant is located in the 3' untranslated region of the TGFBR2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TGFBR2-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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