ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86729_86731AAG[1] (p.Glu28911del) (rs727504797)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622018 SCV000736942 uncertain significance Cardiovascular phenotype 2017-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724632 SCV000228568 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000156123 SCV000730422 likely benign not specified 2018-03-06 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 RCV000472404 SCV000543077 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156123 SCV000205837 uncertain significance not specified 2015-07-30 criteria provided, single submitter clinical testing The p.Glu26343del variant in TTN has been identified by our laboratory in 1 Cauc asian adult with DCM and has also been identified in 15/66666 European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). T his variant is a an in-frame deletion of 1 amino acid at position 26343. It is u nclear if this deletion will impact the protein. In summary, the clinical signif icance of the p.Glu26343 variant is uncertain.

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