ClinVar Miner

Submissions for variant NM_002052.5(GATA4):c.1146+177C>T (rs12156163)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Central Research Laboratory,Sri Devaraj Urs Academy of Higher Education and Research RCV000498278 SCV000590814 pathogenic Congenital heart disease 2017-01-07 no assertion criteria provided clinical testing
Reproductive Health Research and Development,BGI Genomics RCV000498278 SCV001142384 benign Congenital heart disease 2020-01-06 no assertion criteria provided curation NG_008177.2(NM_002052.4):c.1146+177C>T in the gene GATA4 has an allele frequency of 0.223 in European (non-Finnish) subpopulation in the gnomAD database. 435 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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