ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.4069C>T (p.Arg1357Trp) (rs63750428)

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
Mendelics RCV000499136 SCV001139963 benign Pseudoxanthoma elasticum 2019-05-28 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132641 SCV000172592 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
PXE International RCV000499136 SCV000589107 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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.