ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr)

gnomAD frequency: 0.00003  dbSNP: rs786205519
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171283 SCV000221480 likely pathogenic not provided criteria provided, single submitter research
Baylor Genetics RCV001328972 SCV001520243 pathogenic Spondylocostal dysostosis 1, autosomal recessive 2019-11-08 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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.