Submissions for variant NM_032638.5(GATA2):c.564G>C (p.Thr188=)

gnomAD frequency: 0.04681  dbSNP: rs34870876

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253740	SCV000306841	benign	not specified	2017-11-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000279481	SCV000440693	benign	Deafness-lymphedema-leukemia syndrome	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464938	SCV000554443	benign	Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections	2025-02-04	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000253740	SCV000702963	benign	not specified	2016-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001573275	SCV001858513	benign	not provided	2019-01-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573275	SCV002506309	benign	not provided	2024-11-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573275	SCV005301744	benign	not provided		criteria provided, single submitter	not provided
Ambry Genetics	RCV004984769	SCV005596753	benign	Inborn genetic diseases	2024-11-21	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573275	SCV001798881	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000253740	SCV001918564	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000253740	SCV001930147	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000253740	SCV001958718	benign	not specified		no assertion criteria provided	clinical testing