ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala)

gnomAD frequency: 0.00006  dbSNP: rs766638714
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
GeneDx RCV001704961 SCV000238386 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000540945 SCV000642911 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001704961 SCV003825480 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001704961 SCV004225893 uncertain significance not provided 2022-02-14 criteria provided, single submitter clinical testing BP4

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.