ClinVar Miner

Submissions for variant NM_002052.5(GATA4):c.1220C>A (p.Pro407Gln) (rs115099192)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490358 SCV000267333 uncertain significance Atrial septal defect 2; Ventricular septal defect 1; Atrioventricular septal defect 4 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000526826 SCV000651999 benign Atrioventricular septal defect 4 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000023008 SCV000044299 pathogenic Tetralogy of Fallot 2008-11-01 no assertion criteria provided literature only
OMIM RCV000030949 SCV000044301 pathogenic Ventricular septal defect 1 2010-12-01 no assertion criteria provided literature only
Reproductive Development, Murdoch Childrens Research Institute RCV001007695 SCV001146892 benign 46,XY sex reversal, type 3 2019-08-26 no assertion criteria provided research

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