ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.601-380C>A (rs397516475)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603760 SCV000712382 uncertain significance not specified 2016-07-21 criteria provided, single submitter clinical testing The c.571-8C>A variant in TNNT2 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in t he 3' splice region. Computational tools suggest a possible impact to splicing. However, this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of the c.571-8C>A variant is uncertain.

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