Submissions for variant NM_001556.3(IKBKB):c.1240+14A>T

gnomAD frequency: 0.75434  dbSNP: rs2294100

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454393	SCV000539349	benign	not specified	2016-03-28	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	RCV001511648	SCV001718926	benign	Severe combined immunodeficiency due to IKK2 deficiency	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001653797	SCV001863530	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001729597	SCV001977249	benign	Immunodeficiency 15a	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000454393	SCV004101956	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 98% of patients studied by a panel of primary immunodeficiencies. Number of patients: 94. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001653797	SCV005265437	benign	not provided		criteria provided, single submitter	not provided