ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11312-3866G>A (rs145932311)

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Total submissions: 4
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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 RCV000172705 SCV000051323 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152430 SCV000201483 uncertain significance not specified 2015-06-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg5538His va riant in TTN has been identified by our laboratory in 1 Hispanic infant with neo natal-onset DCM. It has also been identified in 0.2% (19/10360) African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs200690479). Computational prediction tools and conservation analysis are limited or unavailable for this variant. In summary, while the clinical signific ance of the p.Arg5538His variant is uncertain, its frequency suggests that it is more likely to be benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172705 SCV000858085 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293239 SCV001431506 likely benign Primary dilated cardiomyopathy no assertion criteria provided research

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