Submissions for variant NM_032638.5(GATA2):c.114G>A (p.Gln38=)

gnomAD frequency: 0.00008  dbSNP: rs775573177

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000349736	SCV000440697	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476879	SCV000554433	benign	Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821034	SCV002070588	benign	not specified	2018-09-27	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256220	SCV002529407	likely benign	Hereditary cancer-predisposing syndrome	2021-09-09	criteria provided, single submitter	curation
Breakthrough Genomics, Breakthrough Genomics	RCV004716019	SCV005301747	benign	not provided		criteria provided, single submitter	not provided