ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr)

gnomAD frequency: 0.00494  dbSNP: rs182454962
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000756018 SCV000577496 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803781 SCV000883719 likely benign Spondylocostal dysostosis 1, autosomal recessive 2020-10-18 criteria provided, single submitter clinical testing
Invitae RCV000756018 SCV001094135 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972815 SCV004788529 benign DLL3-related disorder 2020-03-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.