ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.414C>T (p.Cys138=)

gnomAD frequency: 0.00004  dbSNP: rs769564352
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001494927 SCV001699594 likely benign Sphingolipid activator protein 1 deficiency 2024-04-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277788 SCV001464757 uncertain significance Metachromatic leukodystrophy 2020-04-11 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.