Submissions for variant NM_001308093.3(GATA4):c.1150-107A>G

gnomAD frequency: 0.39169  dbSNP: rs745379

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001643224	SCV001855808	benign	not provided	2019-03-31	criteria provided, single submitter	clinical testing
H3Africa Consortium	RCV001358415	SCV002014634	benign	not specified	2020-10-28	criteria provided, single submitter	research	While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.229, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research	RCV000498104	SCV000590805	pathogenic	Congenital heart disease	2017-01-07	no assertion criteria provided	clinical testing
Reproductive Health Research and Development, BGI Genomics	RCV000498104	SCV001142385	benign	Congenital heart disease	2020-01-06	no assertion criteria provided	curation	NG_008177.2(NM_002052.4):c.1147-107A>G in the gene GATA4 has an allele frequency of 0.510 in European (non-Finnish) subpopulation in the gnomAD database. 2668 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1; BS2.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001358415	SCV001554140	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001358415	SCV001808984	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001358415	SCV001954593	benign	not specified		no assertion criteria provided	clinical testing