ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) (rs72650019)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172681 SCV000051433 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040118 SCV000333974 likely benign not specified 2015-08-18 criteria provided, single submitter clinical testing
GeneDx RCV000040118 SCV000237065 likely benign not specified 2017-12-15 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.
Genetic Services Laboratory, University of Chicago RCV000040118 SCV000597661 likely benign not specified 2016-03-04 criteria provided, single submitter clinical testing
Invitae RCV000234754 SCV000286569 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040118 SCV000063809 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.Val9223Ile in exon 114 of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (52/10712) of European chromo somes by the Exome Aggregation Consortium (ExAC,; dbSNP rs72650019).

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