ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.448+25C>G

dbSNP: rs9610683
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001794877 SCV002033402 benign Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001794875 SCV002033403 benign Neutrophil immunodeficiency syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001794876 SCV002033404 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 RCV003487786 SCV004233348 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 RCV004714338 SCV005277246 benign not provided criteria provided, single submitter not provided

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