ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val)

gnomAD frequency: 0.00131  dbSNP: rs114610541
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000999910 SCV000772283 benign Combined immunodeficiency due to LRBA deficiency 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659003 SCV000780806 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing LRBA: BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999910 SCV000884089 likely benign Combined immunodeficiency due to LRBA deficiency 2019-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918062 SCV004746378 likely benign LRBA-related condition 2023-11-07 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.