ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) (rs766227557)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000338756 SCV000481298 uncertain significance Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392544 SCV000481299 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000338756 SCV000749379 likely benign Gorlin syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015611 SCV001176461 likely benign Hereditary cancer-predisposing syndrome 2017-10-04 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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.