ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys)

gnomAD frequency: 0.00002  dbSNP: rs753136638
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597458 SCV000705214 uncertain significance not provided 2017-01-10 criteria provided, single submitter clinical testing
Invitae RCV000643100 SCV000764787 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000597458 SCV001803283 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000597458 SCV003819009 uncertain significance not provided 2019-04-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000597458 SCV004225911 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing BS1

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.