ClinVar Miner

Submissions for variant NM_002585.4(PBX1):c.550C>T (p.Arg184Ter)

dbSNP: rs1553248081
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003126773 SCV003803838 pathogenic Autism spectrum disorder 2021-08-16 criteria provided, single submitter clinical testing
OMIM RCV000504555 SCV000598542 pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 2017-08-25 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.