ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102024A>G (p.Leu34008=) (rs727504677)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155946 SCV000205658 likely benign not specified 2013-08-14 criteria provided, single submitter clinical testing Leu31440Leu in exon 307 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. Leu31440Leu in exon 307 of TTN (allele freq uency = n/a)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725607 SCV000338110 uncertain significance not provided 2016-05-18 criteria provided, single submitter clinical testing
Invitae RCV000725607 SCV001019799 likely benign not provided 2018-10-04 criteria provided, single submitter clinical testing
Invitae RCV001473677 SCV001677831 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-10-04 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.