Submissions for variant NM_001308093.3(GATA4):c.617-61G>C

gnomAD frequency: 0.10765  dbSNP: rs10503425

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001662487	SCV001872231	benign	not provided	2018-09-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001662487	SCV005272399	benign	not provided		criteria provided, single submitter	not provided
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research	RCV000497692	SCV000590807	pathogenic	Congenital heart disease	2017-01-07	no assertion criteria provided	clinical testing
Reproductive Health Research and Development, BGI Genomics	RCV000497692	SCV001142381	benign	Congenital heart disease	2020-01-06	no assertion criteria provided	curation	NG_008177.2(NM_002052.4):c.617-64G>C in the gene GATA4 has an allele frequency of 0.188 in European (non-Finnish) subpopulation in the gnomAD database. 337 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	RCV001579933	SCV001809097	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579933	SCV001927688	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001579933	SCV001951502	benign	not specified		no assertion criteria provided	clinical testing