Submissions for variant NM_005535.3(IL12RB1):c.-111A>T

gnomAD frequency: 0.21469  dbSNP: rs393548

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455337	SCV000539362	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	RCV001522354	SCV001731884	benign	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	2025-02-03	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000455337	SCV004233999	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 32% of patients studied by a panel of primary immunodeficiencies. Number of patients: 28. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004717608	SCV005312174	benign	not provided		criteria provided, single submitter	not provided