ClinVar Miner

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

dbSNP: rs1051393
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.
Breakthrough Genomics, Breakthrough Genomics RCV001523494 SCV005307708 benign not provided criteria provided, single submitter not provided
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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