ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23939-13C>A

gnomAD frequency: 0.00001  dbSNP: rs876658045
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Total submissions: 3
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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 RCV000222261 SCV000272599 uncertain significance not specified 2015-02-16 criteria provided, single submitter clinical testing The c.20207-13C>A variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.20207-13C>A variant is uncertain.
GeneDx RCV001711998 SCV001940448 likely benign not provided 2019-07-10 criteria provided, single submitter clinical testing
Invitae RCV002054961 SCV002454264 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-19 criteria provided, single submitter clinical testing

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