ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.28T>G (p.Phe10Val)

dbSNP: rs1051393
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001523494 SCV001733204 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702610 SCV001933270 benign Immunodeficiency 45 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487418 SCV004233124 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 69% of patients studied by a panel of primary immunodeficiencies. Number of patients: 66. Only high quality variants are reported.
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV002329653 SCV002515914 association Mortality risk in patients with severe coronavirus disease (COVID-19) 2022-05-06 no assertion criteria provided research

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