ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.-15C>T

gnomAD frequency: 0.00003  dbSNP: rs746692906
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
GeneDx RCV001615018 SCV001842001 benign not provided 2015-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405267 SCV002707858 uncertain significance Cardiovascular phenotype 2018-11-01 criteria provided, single submitter clinical testing The c.-15C>T variant is located in the 5' untranslated region (5’ UTR) of the TTR gene. This variant results from a C to T substitution 15 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002501973 SCV002805009 likely benign Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1 2021-07-08 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.