ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.1006+16_1006+30del

dbSNP: rs386834160
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050154 SCV000082564 probable-pathogenic Imerslund-Grasbeck syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.