ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11756C>A (p.Thr3919Asn) (rs727503661)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769093 SCV000900466 uncertain significance Cardiomyopathy 2017-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000842373 SCV000984389 likely benign not provided 2018-04-27 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 RCV000152427 SCV000201475 uncertain significance not specified 2013-08-11 criteria provided, single submitter clinical testing The Thr3681Asn 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 studies are needed to fully assess the cli nical significance of this variant.

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