ClinVar Miner

Submissions for variant NM_000485.3(APRT):c.97C>T (p.Leu33=)

gnomAD frequency: 0.01977  dbSNP: rs8191473
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
Illumina Laboratory Services, Illumina RCV000307036 SCV000399600 likely benign Adenine phosphoribosyltransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380514 SCV000483560 likely benign Morquio syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518023 SCV001726650 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001518023 SCV001822393 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518023 SCV005219603 likely benign not provided criteria provided, single submitter not provided

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.