ClinVar Miner

Submissions for variant NM_002052.5(GATA4):c.1037C>T (p.Ala346Val) (rs115372595)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000023005 SCV000287293 likely benign Atrioventricular septal defect 4 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503266 SCV000594928 likely benign not specified 2016-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617346 SCV000735099 likely benign Cardiovascular phenotype 2018-12-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
OMIM RCV000023005 SCV000044296 pathogenic Atrioventricular septal defect 4 2007-12-01 no assertion criteria provided literature only
Reproductive Development, Murdoch Childrens Research Institute RCV001007693 SCV001146890 benign 46,XY sex reversal, type 3 2019-08-26 no assertion criteria provided research

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