ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.98-43T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003491059 SCV004233036 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 80% of patients studied by a panel of primary immunodeficiencies. Number of patients: 76. Only high quality variants are reported.
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV002331849 SCV002515911 association Mortality risk in patients with severe coronavirus disease (COVID-19) 2022-05-06 no assertion criteria provided research

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