ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.-13C>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV001524770 SCV001734714 uncertain significance Cardiomyopathy 2020-10-26 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in the 5' untranslated region of the TNNI3 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 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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