Submissions for variant NM_005257.6(GATA6):c.1374C>T (p.Asn458=)

gnomAD frequency: 0.00234  dbSNP: rs143026087

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230072	SCV000288846	benign	Atrioventricular septal defect 5	2025-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000503741	SCV000594931	likely benign	not specified	2017-04-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487075	SCV002802790	likely benign	Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9	2021-09-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003352806	SCV004069949	likely benign	Inborn genetic diseases	2023-06-16	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001795368	SCV004562067	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001795368	SCV004699555	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	GATA6: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001795368	SCV005217177	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000503741	SCV001926270	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000503741	SCV001951607	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795368	SCV002036602	likely benign	not provided		no assertion criteria provided	clinical testing