ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.373-11T>C

dbSNP: rs746918706
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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 RCV001524667 SCV001734599 uncertain significance Cardiomyopathy 2020-09-29 criteria provided, single submitter clinical testing This variant alters two consecutive nucleotides in intron 6 of the TNNI3 gene. Splice site prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. 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.
Invitae RCV001872044 SCV002270678 likely benign Hypertrophic cardiomyopathy 2021-06-26 criteria provided, single submitter clinical testing

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