Submissions for variant NM_001308093.3(GATA4):c.99G>T (p.Ala33=)

gnomAD frequency: 0.00199  dbSNP: rs56166237

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204220	SCV000261999	benign	Atrioventricular septal defect 4	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618306	SCV000736147	benign	Cardiovascular phenotype	2017-09-12	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	RCV001556769	SCV001778406	likely benign	not provided	2021-04-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001556769	SCV003799771	benign	not provided	2023-08-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001795341	SCV002034276	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001556769	SCV002036347	likely benign	not provided		no assertion criteria provided	clinical testing