ClinVar Miner

Submissions for variant NM_005634.2(SOX3):c.449C>A (p.Ser150Tyr) (rs1556518231)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dpt. of Clinical Genetics, Molecular Genetics Lab 4062, University Hospital of Copenhagen, Rigshospitalet RCV000512488 SCV000607714 likely pathogenic Mental retardation with panhypopituitarism, X-linked 2017-10-02 no assertion criteria provided clinical testing segregation fits - several affected males through healthy female carriers.

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.