ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.*3C>A

gnomAD frequency: 0.00003  dbSNP: rs529731863
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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 RCV001180409 SCV001345337 uncertain significance Cardiomyopathy 2020-07-14 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in the 3' untranslated region of the TNNT2 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 8/241084 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.
GeneDx RCV001586026 SCV001818023 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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