ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1150-2A>G (rs1064793978)

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 RCV000486543 SCV000567496 pathogenic not provided 2015-08-05 criteria provided, single submitter clinical testing The IVS9-2 A>G splice site variant in the PTCH1 gene has been previously reported in association withGorlin syndrome (Pastorino et al., 2012). This substitution destroys the canonical splice acceptor site in intron 9, and is expected to cause abnormal gene splicing. Therefore, we interpret IVS9-2 A>G as a pathogenic 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.