ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.337-13T>C

gnomAD frequency: 0.00001  dbSNP: rs762691667
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, Mass General Brigham Personalized Medicine RCV000223469 SCV000271144 likely benign not specified 2016-02-16 criteria provided, single submitter clinical testing c.337-13T>C in intron 3 of TTR: This variant is not expected to have clinical si gnificance because a T>C change at this position does not diverge from the splic e consensus sequence and is therefore unlikely to impact splicing. It has been i dentified in 1/66280 European chromosomes by the Exome Aggregation Consortium (E xAC, http://exac.broadinstitute.org; dbSNP rs762691667).
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173308 SCV001336392 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002517520 SCV003459422 likely benign Familial amyloid neuropathy 2022-07-30 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.