ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.-1-53G>A

gnomAD frequency: 0.41844  dbSNP: rs2245250
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
Genome-Nilou Lab RCV001554069 SCV001775228 benign Maturity-onset diabetes of the young type 11 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001676057 SCV001894998 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464468 SCV002605347 benign Systemic lupus erythematosus criteria provided, single submitter research BLK gene is associated with Systemic lupus erythematosus, sjogren's syndrome and other systemic inflammatory conditions. However no sufficient evidence is found to ascertain the role of this particular variant rs2245250, yet.
Breakthrough Genomics, Breakthrough Genomics RCV001676057 SCV005272356 benign not provided criteria provided, single submitter not provided

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.