ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) (rs531432790)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156609 SCV000206329 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing The Ile28359Lys variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the Ile28359Lys var iant is uncertain.
GeneDx RCV000156609 SCV000237770 likely benign not specified 2017-11-16 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.
Invitae RCV000643727 SCV000765414 benign not provided 2018-10-31 criteria provided, single submitter clinical testing

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