ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.909+32G>T

gnomAD frequency: 0.06451  dbSNP: rs41307569
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247827 SCV000309198 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538045 SCV001755051 benign Combined PSAP deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538046 SCV001755052 benign Krabbe disease due to saposin A deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538047 SCV001755053 benign Sphingolipid activator protein 1 deficiency 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001610631 SCV001838254 benign not provided 2015-03-03 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. 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.