Submissions for variant NM_001308093.3(GATA4):c.1116A>G (p.Ser372=)

gnomAD frequency: 0.00928  dbSNP: rs112435835

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227214	SCV000287294	benign	Atrioventricular septal defect 4	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617783	SCV000736184	benign	Cardiovascular phenotype	2016-10-27	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.
GeneDx	RCV001589178	SCV001815275	likely benign	not provided	2020-12-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001796730	SCV003934814	benign	not specified	2023-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001589178	SCV004564038	benign	not provided	2023-09-22	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001589178	SCV002036282	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796730	SCV002037996	benign	not specified		no assertion criteria provided	clinical testing