ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27328+4T>G

dbSNP: rs876658048
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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, Mass General Brigham Personalized Medicine RCV000220511 SCV000272610 uncertain significance not specified 2015-01-02 criteria provided, single submitter clinical testing The c.23596+4T>G variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in t he 5' 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.23596+4T>G variant is uncertain.

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