Submissions for variant NM_001002295.2(GATA3):c.216G>T (p.Val72=)

gnomAD frequency: 0.00006  dbSNP: rs560531559

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000322130	SCV000365290	benign	Hypoparathyroidism, deafness, renal disease 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.
Athena Diagnostics Inc	RCV001288970	SCV001476444	benign	not specified	2020-03-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001549549	SCV001769726	likely benign	not provided	2019-04-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001288970	SCV002064790	likely benign	not specified	2020-09-14	criteria provided, single submitter	clinical testing
Invitae	RCV001549549	SCV002409985	benign	not provided	2024-01-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001549549	SCV004126432	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	GATA3: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003940139	SCV004760753	benign	GATA3-related condition	2020-03-17	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).