ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) (rs199683465)

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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490405 SCV000267565 uncertain significance Lymphoproliferative syndrome 2, X-linked 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000490405 SCV001069922 benign Lymphoproliferative syndrome 2, X-linked 2020-11-10 criteria provided, single submitter clinical testing
OMIM RCV000490405 SCV000611882 pathogenic Lymphoproliferative syndrome 2, X-linked 2017-12-05 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.