ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55303-10C>G

dbSNP: rs773047398
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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 RCV000825478 SCV000966781 uncertain significance not specified 2018-04-06 criteria provided, single submitter clinical testing The c.47599-10C>G variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from 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 pat hogenicity. In summary, the clinical significance of the c.47599-10C>G variant i s uncertain. ACMG/AMP Criteria applied: PM2; BP4.

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