ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1307A>C (p.Tyr436Ser)

dbSNP: rs1644741692
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
Fulgent Genetics, Fulgent Genetics RCV002505894 SCV002806780 uncertain significance Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-12-26 criteria provided, single submitter clinical testing
JKU Lab, Dept of Paediatrics, Johannes Kepler University RCV002247166 SCV002515969 uncertain significance Hypophosphatasia 2021-12-25 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.