ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12887C>T (p.Ser4296Leu)

dbSNP: rs727503657
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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 RCV000152419 SCV000201453 uncertain significance not specified 2013-10-21 criteria provided, single submitter clinical testing The Ser4058Leu variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational analyses are lim ited or unavailable for this variant. Additional information is needed to fully assess the clinical significance of this variant.

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