ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.762C>T (p.Ala254=)

dbSNP: rs141546409
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004717787 SCV005314581 benign not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV002506601 SCV002802844 likely benign Duane-radial ray syndrome; Oculootoradial syndrome 2021-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513541 SCV001721174 benign Duane-radial ray syndrome 2025-08-02 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.