ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3369C>T (p.Gly1123=) (rs62637630)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565582 SCV000674466 benign Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000321762 SCV000481272 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204338 SCV000481273 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204338 SCV000261180 benign Gorlin syndrome 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242771 SCV000303352 benign not specified 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.