Submissions for variant NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)

gnomAD frequency: 0.25155  dbSNP: rs11575934

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000395252	SCV000411209	benign	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454739	SCV000539358	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, no convincing disease association
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000600598	SCV000743866	likely benign	Immunodeficiency 27A	2015-12-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000395252	SCV001720294	benign	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000395252	SCV001981045	benign	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	2021-08-19	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000454739	SCV004233981	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 35% of patients studied by a panel of primary immunodeficiencies. Number of patients: 31. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004703768	SCV005210772	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600598	SCV000733864	benign	Immunodeficiency 27A		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000454739	SCV001955292	benign	not specified		no assertion criteria provided	clinical testing