ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+1372C>T (rs141407971)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040998 SCV000064689 likely benign not specified 2012-04-03 criteria provided, single submitter clinical testing Arg3550Trp in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.45% (17/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs141407971). Arg3550Trp in exon 45A of TT N (rs141407971, allele frequency = 0.45%, 17/3738) **
GeneDx RCV000040998 SCV000236714 benign not specified 2014-07-08 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040998 SCV000704190 likely benign not specified 2016-12-05 criteria provided, single submitter clinical testing

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