ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3426C>T (p.Ala1142=) (rs149691476)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565657 SCV000674526 likely benign Hereditary cancer-predisposing syndrome 2017-08-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732074 SCV000859975 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
Invitae RCV000229395 SCV000284341 benign Gorlin syndrome 2017-11-24 criteria provided, single submitter clinical testing

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.