Submissions for variant NM_001308093.3(GATA4):c.617-113T>C

gnomAD frequency: 0.80128  dbSNP: rs3735819

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001702664	SCV001948787	benign	not provided	2018-09-04	criteria provided, single submitter	clinical testing
H3Africa Consortium	RCV001579893	SCV002014632	benign	not specified	2020-10-28	criteria provided, single submitter	research	While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.833, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Breakthrough Genomics, Breakthrough Genomics	RCV001702664	SCV005272398	benign	not provided		criteria provided, single submitter	not provided
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research	RCV000498657	SCV000590806	pathogenic	Congenital heart disease	2017-01-07	no assertion criteria provided	clinical testing
Reproductive Health Research and Development, BGI Genomics	RCV000498657	SCV001142380	benign	Congenital heart disease	2020-01-06	no assertion criteria provided	curation	NG_008177.2(NM_002052.4):c.617-116T>C in the gene GATA4 has an allele frequency of 0.898 in African subpopulation in the gnomAD database. 128 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579893	SCV001808892	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702664	SCV001932916	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001579893	SCV001955044	benign	not specified		no assertion criteria provided	clinical testing