ClinVar Miner

Submissions for variant NM_000374.5(UROD):c.995G>A (p.Arg332His)

dbSNP: rs121918066
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
Centogene AG - the Rare Disease Company RCV000000094 SCV002028324 uncertain significance Familial porphyria cutanea tarda 2021-09-08 criteria provided, single submitter clinical testing
Mendelics RCV000000094 SCV002519944 pathogenic Familial porphyria cutanea tarda 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000000094 SCV000020237 pathogenic Familial porphyria cutanea tarda 1998-11-01 no assertion criteria provided literature only

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.