ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1000+56C>A

gnomAD frequency: 0.61291  dbSNP: rs804280
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001520863 SCV001730076 benign Atrioventricular septal defect 4 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000128537 SCV001858316 benign not provided 2018-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25928801)
Mendelics RCV001355154 SCV002516119 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004019726 SCV004793376 benign GATA4-related disorder 2021-02-16 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).
Molecular Genetics and Enzymology, National Research Centre RCV000128537 SCV000172174 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research RCV000497379 SCV000590804 pathogenic Congenital heart disease 2017-01-07 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355154 SCV001549948 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001355154 SCV001809548 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001355154 SCV001932828 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001355154 SCV001954873 benign not specified no assertion criteria provided clinical testing

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.