ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
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:/ /evs.gs.washington.edu/EVS; 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.