ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92498C>T (p.Thr30833Ile)

dbSNP: rs727505334
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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 RCV000156884 SCV000206605 uncertain significance not specified 2014-11-05 criteria provided, single submitter clinical testing The p.Thr28265Ile variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein. In summary, the clinical significance of the p.Thr28265Ile variant is uncertain.

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