Submissions for variant NM_032638.5(GATA2):c.1233G>A (p.Ala411=)

gnomAD frequency: 0.01909  dbSNP: rs34172218

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252712	SCV000306835	benign	not specified	2018-03-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000320406	SCV000440688	benign	Deafness-lymphedema-leukemia syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000252712	SCV000539223	benign	not specified	2016-03-28	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, silent variant not in splice consensus
Invitae	RCV000461255	SCV000554431	benign	Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001589247	SCV001158578	benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001589247	SCV001825726	likely benign	not provided	2020-12-18	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000252712	SCV001799591	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000252712	SCV001807923	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000252712	SCV001919324	benign	not specified		no assertion criteria provided	clinical testing