ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.322-1G>A

dbSNP: rs794729059
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183525 SCV000235988 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing The c.322-1 G>A variant has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. This variant destroys the canonical splice acceptor site in intron 3 and is predicted to cause abnormal gene splicing. However, no mutations associated with haploinsuffiency have been reported in the LDB3 gene in HGMD in association with cardiomyopathy (Stenson P et al., 2009). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

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.