ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.116C>T (p.Pro39Leu) (rs142352008)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242255 SCV000308016 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329303 SCV000471325 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000963045 SCV001110171 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Carola Vinuesa Lab,John Curtin School of Medical Research RCV000758180 SCV000886645 benign Systemic lupus erythematosus no assertion criteria provided 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.