ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) (rs72657698)

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
Baylor Miraca Genetics Laboratories, RCV000191056 SCV000245445 likely benign Pseudoxanthoma elasticum 2015-06-29 criteria provided, single submitter clinical testing This variant was found once in our laboratory in trans with a pathogenic variant [R518X] in a 39-year-old male with hereditary anemia, angioid streaks on retina, possible pseudoxanthoma elasticum, fatigue, chronic joint pain. However, variant is common, and we have identified homozygotes who do not have features of PXE.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132642 SCV000172593 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
PXE International RCV000191056 SCV000588935 pathogenic Pseudoxanthoma elasticum criteria provided, single submitter 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.