ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1208+1G>A

dbSNP: rs1553762556
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
CeGaT Center for Human Genetics Tuebingen RCV003311852 SCV004011501 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing CP: PP4:Strong, PVS1:Strong, PM2, PS4:Supporting
Dept of Medicine and Surgery, University of Milano-Bicocca RCV000584747 SCV000679753 pathogenic Deficiency of ferroxidase 2009-01-01 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.