ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29448_29450AGA[2] (p.Glu9820del) (rs377232641)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000040091 SCV000572652 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040091 SCV000063782 uncertain significance not specified 2012-07-26 criteria provided, single submitter clinical testing The Glu8576del variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant causes an in frame deletion of t he amino acid glutamic acid (Glu) at position 8576. The impact this variant has on the protein is unknown. Additional studies are needed to fully assess its c linical significance.

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