ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) (rs727503603)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152312 SCV000201193 uncertain significance not specified 2013-11-12 criteria provided, single submitter clinical testing The Arg15455Gln variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses are li mited or unavailable for this variant. Additional information is needed to fully assess the clinical significance of the Arg15455Gln variant.
Invitae RCV000553364 SCV000643353 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000152312 SCV000714638 likely benign not specified 2018-03-07 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.
Athena Diagnostics Inc RCV000714052 SCV000844717 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000714052 SCV000856438 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing

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