ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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).
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 RCV001085828 SCV000555328 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727735 SCV000855104 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000727735 SCV001146320 benign not provided 2019-06-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000039859 SCV001160533 likely benign not specified 2019-05-22 criteria provided, single submitter clinical testing

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