ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) (rs115119858)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040130 SCV000063821 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing Thr9485Met in exon 123 of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (11/3076) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /; dbSNP rs115119858). Thr9485Met in exon 123 of TTN ( rs115119858; allele frequency = 0.4%, 11/3076) **
GeneDx RCV000040130 SCV000237078 likely benign not specified 2017-10-23 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.
Ambry Genetics RCV000241648 SCV000318654 uncertain significance Cardiovascular phenotype 2013-05-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040130 SCV000333102 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Invitae RCV000474330 SCV000555554 likely benign not provided 2019-02-06 criteria provided, single submitter clinical testing

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