ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1138-25T>C

gnomAD frequency: 0.67780  dbSNP: rs10767828
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001615694 SCV001835835 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810121 SCV002057217 benign Combined immunodeficiency due to STIM1 deficiency 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810122 SCV002057218 benign Myopathy, tubular aggregate, 1 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810123 SCV002057219 benign Stormorken syndrome 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487512 SCV004233765 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 96% of patients studied by a panel of primary immunodeficiencies. Number of patients: 91. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001615694 SCV005321441 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.