ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.180T>C (p.Asp60=) (rs144750850)

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
Invitae RCV000727752 SCV000286471 benign not provided 2019-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000417639 SCV000515072 likely benign not specified 2017-09-14 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 RCV000417639 SCV000710972 likely benign not specified 2016-05-27 criteria provided, single submitter clinical testing p.Asp60Asp in exon 3 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 9/10406 African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs144750850).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727752 SCV000855130 uncertain significance not provided 2017-09-19 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.