ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) (rs369855092)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155823 SCV000205534 benign not specified 2016-08-04 criteria provided, single submitter clinical testing p.Leu27429Met in exon 284 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1.1% (178/16496) of South Asian chromosomes, including 2 homozygotes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs369855092).
GeneDx RCV000155823 SCV000237722 benign not specified 2016-03-25 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 RCV000155823 SCV000334934 benign not specified 2015-09-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387336 SCV000420967 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292921 SCV000420968 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352439 SCV000420969 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403299 SCV000420970 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289428 SCV000420971 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344162 SCV000420972 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000643752 SCV000765439 benign not provided 2019-02-27 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.