ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.528C>T (p.Ala176=)

gnomAD frequency: 0.00003  dbSNP: rs758330265
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 RCV000932751 SCV001078438 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502852 SCV002809580 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832123 SCV002094059 likely benign Hypophosphatasia 2020-09-25 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.