Submissions for variant NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)

gnomAD frequency: 0.00152  dbSNP: rs145709687

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000291873	SCV000341138	likely benign	not specified	2017-04-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000291873	SCV000595650	uncertain significance	not specified	2016-06-13	criteria provided, single submitter	clinical testing
Invitae	RCV001085157	SCV000652638	benign	Combined immunodeficiency due to LRBA deficiency	2024-01-25	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000788151	SCV000927173	uncertain significance	not provided	2017-02-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000788151	SCV001500326	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	LRBA: BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000788151	SCV001714721	uncertain significance	not provided	2020-03-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003949897	SCV004764329	likely benign	LRBA-related condition	2023-07-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000788151	SCV001742924	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000788151	SCV001965007	uncertain significance	not provided		no assertion criteria provided	clinical testing