Submissions for variant NM_001308093.3(GATA4):c.825C>T (p.Cys275=)

gnomAD frequency: 0.00275  dbSNP: rs55980825

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037324	SCV000060981	benign	not specified	2016-04-07	criteria provided, single submitter	clinical testing	p.Cys274Cys in exon 4 of GATA4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.3% (202/66414) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs55980825).
Invitae	RCV000228063	SCV000287300	benign	Atrioventricular septal defect 4	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000249584	SCV000318063	likely benign	Cardiovascular phenotype	2016-09-15	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.
Genetic Services Laboratory, University of Chicago	RCV000037324	SCV000594925	likely benign	not specified	2016-11-04	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000577946	SCV000679863	uncertain significance	Atrial septal defect 2	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000228063	SCV000679864	uncertain significance	Atrioventricular septal defect 4	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578059	SCV000679865	uncertain significance	Primary dilated cardiomyopathy	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000577944	SCV000679866	uncertain significance	Tetralogy of Fallot	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578024	SCV000679867	uncertain significance	Ventricular septal defect 1	2017-08-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001529780	SCV001788823	likely benign	not provided	2020-12-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30590232, 30229885, 28381408, 20874241, 24033266, 27374936, 18076106, 18055909, 12939651)
CeGaT Center for Human Genetics Tuebingen	RCV001529780	SCV004164377	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	GATA4: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529780	SCV001743847	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529780	SCV001932976	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529780	SCV001955233	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529780	SCV001975912	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529780	SCV002036098	likely benign	not provided		no assertion criteria provided	clinical testing