ClinVar Miner

Submissions for variant NM_005631.5(SMO):c.1417G>C (p.Asp473His)

dbSNP: rs17710891
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000431122 SCV000504244 pathogenic Medulloblastoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441195 SCV000504245 pathogenic Basal cell carcinoma 2016-03-10 no assertion criteria provided literature only

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.