Submissions for variant NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys)

gnomAD frequency: 0.02129  dbSNP: rs35879351

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454936	SCV000539556	likely 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
Invitae	RCV000552960	SCV000652628	benign	Combined immunodeficiency due to LRBA deficiency	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000552960	SCV001156994	benign	Combined immunodeficiency due to LRBA deficiency	2023-11-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000454936	SCV001931136	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724008	SCV001952559	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001724008	SCV002037082	likely benign	not provided		no assertion criteria provided	clinical testing