ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11602T>C (p.Phe3868Leu)

dbSNP: rs727504700
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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 RCV000155983 SCV000205695 uncertain significance not specified 2013-08-14 criteria provided, single submitter clinical testing The Phe3630Leu variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses are limited or una vailable for this variant. Additional information is needed to fully assess the clinical significance of this variant.

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