ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53219G>A (p.Gly17740Asp)

gnomAD frequency: 0.00001  dbSNP: rs1219250375
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993453 SCV001146429 uncertain significance not provided 2018-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000993453 SCV005443324 uncertain significance not provided 2024-07-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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.