Submissions for variant NM_032638.5(GATA2):c.1173A>G (p.Glu391=)

gnomAD frequency: 0.00041  dbSNP: rs145076941

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467235	SCV000554432	benign	Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections	2025-01-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821307	SCV002064617	likely benign	not specified	2021-08-12	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255401	SCV002529409	likely benign	Hereditary cancer-predisposing syndrome	2021-12-28	criteria provided, single submitter	curation
Breakthrough Genomics, Breakthrough Genomics	RCV004711114	SCV005264780	likely benign	not provided		criteria provided, single submitter	not provided
Ambry Genetics	RCV004975530	SCV005596775	likely benign	Inborn genetic diseases	2024-08-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003912817	SCV004729909	likely benign	GATA2-related disorder	2020-04-27	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).