ClinVar Miner

Submissions for variant NM_002052.5(GATA4):c.1146+129C>T (rs116052854)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Central Research Laboratory,Sri Devaraj Urs Academy of Higher Education and Research RCV000497522 SCV000590813 pathogenic Congenital heart disease 2017-01-07 no assertion criteria provided clinical testing
Reproductive Health Research and Development,BGI Genomics RCV000497522 SCV001142383 benign Congenital heart disease 2020-01-06 no assertion criteria provided curation NG_008177.2(NM_002052.4):c.1146+129C>T in the GATA4 gene has an allele frequency of 0.034 in African subpopulation in the gnomAD database. 8 homozygous occurrences are observed in the gnomAD database. Benign computational verdict because benign prediction from DANN. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2, BP4.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.