ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58897A>G (p.Ile19633Val)

dbSNP: rs727505028
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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 RCV000156454 SCV000206173 uncertain significance not specified 2014-04-02 criteria provided, single submitter clinical testing The Ile17065Val variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. Additional information is needed to fully assess the clinical significance of the Ile17065Val variant.

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