ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) (rs145133144)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726356 SCV000701366 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000040777 SCV000715656 likely benign not specified 2018-02-21 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.
Genetic Services Laboratory, University of Chicago RCV000040777 SCV000597637 likely benign not specified 2016-06-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040777 SCV000064468 likely benign not specified 2012-04-03 criteria provided, single submitter clinical testing Asp27907Asp in exon 285 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence (dbSNP rs145133144). Asp27907Asp in exon 285 of TTN (rs145133144; allele frequency = n/a)

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.