ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.151+4A>G (rs1481733213)

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
Stewart Lab,University of Birmingham RCV000677227 SCV000803365 likely pathogenic Seckel syndrome 1 no assertion criteria provided research Identified in a patient with Seckel Syndrome, SCKL1. Associated with a reduction in ATR protein expression in patient-derived cells. It is likely that this mutation disrupts mRNA splicing. The other ATR gene mutation inherited in this patient is NM_001184.3:c.4995G>T.

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.