Submissions for variant NM_001364905.1(LRBA):c.6046+7G>T

gnomAD frequency: 0.00010  dbSNP: rs376126419

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV001281017	SCV001468422	uncertain significance	Combined immunodeficiency due to LRBA deficiency	2021-03-30	criteria provided, single submitter	clinical testing	LRBA NM_006726.4 intron 38 c.6046+7G>T:This variant has not been reported in the literature but is present in 0.02% (29/128872) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/4-151520152-C-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:748229). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001281017	SCV001657513	likely benign	Combined immunodeficiency due to LRBA deficiency	2024-12-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003923315	SCV004745349	likely benign	LRBA-related disorder	2019-09-12	no assertion criteria provided	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).