Submissions for variant NM_005534.4(IFNGR2):c.561+11C>G

gnomAD frequency: 0.77154  dbSNP: rs11910627

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455739	SCV000539334	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522273	SCV001731788	benign	Immunodeficiency 28	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001672766	SCV001888446	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001522273	SCV001933277	benign	Immunodeficiency 28	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000455739	SCV004234105	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 92% of patients studied by a panel of primary immunodeficiencies. Number of patients: 81. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001672766	SCV005307738	benign	not provided		criteria provided, single submitter	not provided