ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)

gnomAD frequency: 0.00024  dbSNP: rs377042940
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725150 SCV000334504 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000725150 SCV000724476 likely benign not provided 2021-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085118 SCV001002566 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725150 SCV003820237 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000725150 SCV001924957 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725150 SCV001973853 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000725150 SCV001977758 uncertain significance not provided 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.