ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.654C>T (p.Cys218=)

gnomAD frequency: 0.00001  dbSNP: rs1943729887
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
Invitae RCV001423574 SCV001626155 likely benign Cholestanol storage disease 2023-12-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701159 SCV001919549 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701159 SCV001970707 likely benign not provided no assertion criteria provided 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. 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.