ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) (rs184307461)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727735 SCV000855104 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000039859 SCV000515091 likely benign not specified 2016-12-16 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 RCV000476919 SCV000555328 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039859 SCV000063550 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing p.Asp3601Asp in exon 47 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 7/ 11536 Latino ch romosomes and 14/66666 European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; rs184307461).

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