ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29042-16G>A

gnomAD frequency: 0.05999  dbSNP: rs10203085
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000180771 SCV000169200 benign not specified 2013-07-08 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.
Eurofins Ntd Llc (ga) RCV000180771 SCV000233259 benign not specified 2015-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180771 SCV000315453 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000180771 SCV001362648 benign not specified 2019-08-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839925 SCV002101916 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839926 SCV002101917 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839927 SCV002101918 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839924 SCV002101921 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV002055599 SCV002393082 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000180771 SCV001923591 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000180771 SCV001968854 benign not specified no assertion criteria provided 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.