ClinVar Miner

Submissions for variant NM_002052.5(GATA4):c.997+56C>A (rs804280)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001520863 SCV001730076 benign Atrioventricular septal defect 4 2020-12-07 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)
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
Human Genetics - Radboudumc,Radboudumc RCV001355154 SCV001954873 benign not specified no assertion criteria provided clinical testing

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