Submissions for variant NM_002184.4(IL6ST):c.442G>C (p.Gly148Arg)

gnomAD frequency: 0.21678  dbSNP: rs2228044

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome-Nilou Lab	RCV001421008	SCV001623472	benign	Hyper-IgE recurrent infection syndrome 4, autosomal recessive	2021-05-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522174	SCV001731661	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV003490246	SCV004234066	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 24% of patients studied by a panel of primary immunodeficiencies. Number of patients: 21. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001522174	SCV005301099	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003983889	SCV004799874	benign	IL6ST-related disorder	2019-11-05	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).