ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29638G>A (p.Glu9880Lys)

gnomAD frequency: 0.00003  dbSNP: rs532933900
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
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768898 SCV000900271 uncertain significance Cardiomyopathy 2017-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508121 SCV001714062 uncertain significance not provided 2020-08-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001508121 SCV004152497 uncertain significance not provided 2022-08-01 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.