ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64101G>A (p.Pro21367=) (rs397517657)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040476 SCV000064167 likely benign not specified 2011-12-12 criteria provided, single submitter clinical testing Pro18799Pro in exon 257 of TTN: This variant is not expected to have clinical si gnificance because it does not change an amino acid and does not affect the spli ce consensus sequence. Pro18799Pro in exon 257 of TTN (allele frequency = n/a).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731919 SCV000859789 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
Invitae RCV001087658 SCV001011270 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-27 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.