ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.23T>C (p.Phe8Ser)

gnomAD frequency: 0.08893  dbSNP: rs2229207
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001523493 SCV001733203 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701719 SCV001933269 benign Immunodeficiency 45 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488329 SCV004233667 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 29% of patients studied by a panel of primary immunodeficiencies. Number of patients: 28. Only high quality variants are reported.
OMIM RCV000007711 SCV000027912 risk factor Hepatitis B virus, susceptibility to 2006-06-13 no assertion criteria provided literature only
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV002326668 SCV002515915 uncertain significance Mortality risk in patients with severe coronavirus disease (COVID-19) 2022-05-06 no assertion criteria provided research

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