ClinVar Miner

Submissions for variant NM_000361.2(THBD):c.1502C>T (p.Pro501Leu) (rs1800579)

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
Illumina Clinical Services Laboratory,Illumina RCV000356092 SCV000433109 likely benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000882070 SCV001025288 likely benign not provided 2018-12-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000882070 SCV001153440 uncertain significance not provided 2017-06-01 criteria provided, single submitter 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.