ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99810C>T (p.Val33270=) (rs564536939)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000156252 SCV000517019 likely benign not specified 2017-03-31 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.
Invitae RCV000472013 SCV000555167 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-07-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156252 SCV000205968 likely benign not specified 2013-12-26 criteria provided, single submitter clinical testing Val30702Val in exon 304 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. Val30702Val in exon 304 of TTN (allele freq uency = 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.