ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63114C>A (p.Val21038=)

gnomAD frequency: 0.00001  dbSNP: rs201642579
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040460 SCV000064151 likely benign not specified 2012-11-05 criteria provided, single submitter clinical testing Val18470Val in exon 253 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence (dbSNP rs201642579). Val18470Val in exon 25 3 of TTN (rs201642579; allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV003764697 SCV004578870 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-04-11 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.