ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) (rs66839174)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039878 SCV000063569 benign not specified 2015-11-09 criteria provided, single submitter clinical testing p.Val4040Met in exon 51 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (121/9780) of African chromoso mes by the Exome Aggregation Consortium (ExAC,; d bSNP rs66839174).
Genetic Services Laboratory, University of Chicago RCV000039878 SCV000153174 likely benign not specified 2014-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000039878 SCV000238222 benign not specified 2015-06-11 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 RCV000232564 SCV000286457 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-03 criteria provided, single submitter clinical testing

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