ClinVar Miner

Submissions for variant NM_005631.5(SMO):c.621C>T (p.Tyr207=)

gnomAD frequency: 0.00282  dbSNP: rs56318556
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000911917 SCV001056997 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505342 SCV002811771 likely benign Basal cell carcinoma, susceptibility to, 1; Curry-Jones syndrome; Hamartoma of hypothalamus 2022-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932996 SCV004755145 benign SMO-related disorder 2019-08-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.