ClinVar Miner

Submissions for variant NM_005220.3(DLX3):c.574del (p.Glu192fs)

dbSNP: rs1057518764
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
Fulgent Genetics, Fulgent Genetics RCV000585754 SCV002787045 likely pathogenic Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism; Tricho-dento-osseous syndrome 2022-04-27 criteria provided, single submitter clinical testing
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV000585754 SCV000583455 pathogenic Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism; Tricho-dento-osseous syndrome 2017-07-03 no assertion criteria provided research The frameshift variant is within the final exon and therefore the protein is likely to escape nonsense mediated decay. The final 96 amino acids are expected to be lost from the 287 amino acid protein.

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.