ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) (rs202108224)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000039938 SCV000616016 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039938 SCV000114340 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000039938 SCV000719941 likely benign not specified 2017-06-26 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 RCV000472656 SCV000555465 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039938 SCV000063629 likely benign not specified 2012-01-24 criteria provided, single submitter clinical testing Ala5502Thr in exon 66 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 0.4% (12/3120) of African American ch romosomes by the NHLBI Exome Sequencing Project in a broad population (http://ev s.gs.washington.edu/EVS). Ala5502Thr in exon 66 of TTN (allele frequency = 0.4% , 12/3120) **

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