ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.134G>A (p.Arg45Gln)

gnomAD frequency: 0.01058  dbSNP: rs145088108
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
Invitae RCV000547015 SCV000655080 benign Severe combined immunodeficiency due to LCK deficiency 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001675930 SCV001893899 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003403333 SCV004102541 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 22% of patients studied by a panel of primary immunodeficiencies. Number of patients: 21. Only high quality variants are reported.

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.