ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) (rs199531140)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172145 SCV000054860 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172145 SCV000335440 uncertain significance not provided 2016-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000220851 SCV000730176 likely benign not specified 2017-03-16 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220851 SCV000271129 likely benign not specified 2015-07-09 criteria provided, single submitter clinical testing p.Glu33129Gln in exon 309 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (42/15700) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs199531140).

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.