ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr)

gnomAD frequency: 0.00003  dbSNP: rs200319078
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461351 SCV000554414 benign Atrioventricular septal defect 4 2024-01-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000499567 SCV000594926 benign not specified 2017-06-09 criteria provided, single submitter clinical testing
GeneDx RCV001591107 SCV001817378 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Reproductive Development, Murdoch Childrens Research Institute RCV001007694 SCV001146891 benign 46,XY sex reversal 3 2019-08-26 no assertion criteria provided research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000499567 SCV002036241 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001591107 SCV002037457 likely benign not provided no assertion criteria provided clinical testing

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