ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.*852G>A

gnomAD frequency: 0.15840  dbSNP: rs804290
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001672805 SCV001884563 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004023350 SCV004797341 benign GATA4-related disorder 2021-09-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research RCV000498930 SCV000590815 pathogenic Congenital heart disease 2017-01-07 no assertion criteria provided clinical testing
Reproductive Health Research and Development, BGI Genomics RCV000498930 SCV001142386 benign Congenital heart disease 2020-01-06 no assertion criteria provided curation NM_002052.3:c.*852G>A in the gene GATA4 has an allele frequency of 0.228 in European (non-Finnish) subpopulation in the gnomAD database. 460 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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