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

gnomAD frequency: 0.08893  dbSNP: rs2229207

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001523493	SCV005307707	benign	not provided		criteria provided, single submitter	not provided
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