ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.541-50A>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV003492742 SCV004232621 benign Immunodeficiency 45 2024-01-23 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003491060 SCV004233012 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 83% of patients studied by a panel of primary immunodeficiencies. Number of patients: 79. Only high quality variants are reported.
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV002331850 SCV002515912 uncertain significance Mortality risk in patients with severe coronavirus disease (COVID-19) 2022-05-06 no assertion criteria provided research

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