Submissions for variant NM_001308093.3(GATA4):c.912+25G>A

gnomAD frequency: 0.00539  dbSNP: rs147860174

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV002247505	SCV002516108	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004019725	SCV004729303	likely benign	GATA4-related disorder	2021-07-09	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Molecular Genetics, Royal Melbourne Hospital	RCV003993815	SCV004812449	likely benign	Testicular anomalies with or without congenital heart disease	2023-05-04	criteria provided, single submitter	clinical testing	European Non-Finnish population allele frequency is 0.7469% (rs147860174, 546/68036 alleles, 4 homozygotes in gnomAD v3.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as LIKELY BENIGN. Following criteria are met: BS1
Molecular Genetics and Enzymology, National Research Centre	RCV000128536	SCV000172173	unknown	not provided		no assertion criteria provided	not provided	Converted during submission to Uncertain significance.
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research	RCV000498033	SCV000590808	pathogenic	Congenital heart disease	2017-01-07	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000128536	SCV001929336	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000128536	SCV001952582	likely benign	not provided		no assertion criteria provided	clinical testing