ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31762+5_31762+7del (rs397517538)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040124 SCV000063815 likely benign not specified 2018-08-16 criteria provided, single submitter clinical testing c.28030+5_28030+7delGCC in intron 118 of TTN: This variant is not expected to ha ve clinical significance because it has been identified in 0.04% (10/25696) of F innish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org; dbSNP rs397517538). In addition, this variant is located in the 5' splice region and computational tools do not suggest an impact to splicing. ACMG/AMP Criteria applied: BS1; BP4.
Invitae RCV000459619 SCV000542245 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000040124 SCV000565638 benign not specified 2015-10-20 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.
Athena Diagnostics Inc RCV000714012 SCV000844675 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000714012 SCV000855270 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000714012 SCV001152992 uncertain significance not provided 2017-04-01 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.