ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1568-4T>A

gnomAD frequency: 0.00004  dbSNP: rs764779610
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 RCV001707778 SCV000720981 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619973 SCV000737631 uncertain significance Cardiovascular phenotype 2021-04-24 criteria provided, single submitter clinical testing The c.1568-4T>A intronic variant results from a T to A substitution 4 nucleotides upstream from coding exon 27 in the TRDN gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002531535 SCV001649536 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-30 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.