ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.448+37A>G

gnomAD frequency: 0.41562  dbSNP: rs9610682
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001794874 SCV002033399 benign Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001794872 SCV002033400 benign Neutrophil immunodeficiency syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001794873 SCV002033401 benign Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 2021-11-07 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487785 SCV004233347 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 52% of patients studied by a panel of primary immunodeficiencies. Number of patients: 49. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004714337 SCV005277245 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.