Submissions for variant NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly)

gnomAD frequency: 0.12249  dbSNP: rs1782360

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000269824	SCV000332430	benign	not specified	2015-06-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000269824	SCV000539555	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	RCV001515471	SCV001723553	benign	Combined immunodeficiency due to LRBA deficiency	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001683154	SCV001903024	benign	not provided	2020-08-15	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000269824	SCV004102497	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 24% of patients studied by a panel of primary immunodeficiencies. Number of patients: 23. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001683154	SCV005305489	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000269824	SCV001742006	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000269824	SCV001952983	benign	not specified		no assertion criteria provided	clinical testing