ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1000+200G>A

gnomAD frequency: 0.09369  dbSNP: rs3729851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722420 SCV001948854 benign not provided 2018-09-11 criteria provided, single submitter clinical testing
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research RCV000498356 SCV000590811 pathogenic Congenital heart disease 2017-01-07 no assertion criteria provided clinical testing
Reproductive Health Research and Development, BGI Genomics RCV000498356 SCV001142382 benign Congenital heart disease 2020-01-06 no assertion criteria provided curation NG_008177.2(NM_002052.4):c.997+200G>A in the gene GATA4 has an allele frequency of 0.138 in European (non-Finnish) subpopulation in the gnomAD database. 152 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.

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