ClinVar Miner

Submissions for variant NM_002052.5(GATA4):c.1129A>G (p.Ser377Gly) (rs3729856)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037322 SCV000060979 benign not specified 2016-12-13 criteria provided, single submitter clinical testing p.Ser377Gly in exon 6 of GATA4: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It h as been identified in 14% (927/6596) of European chromosomes, including 67 homoz ygotes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs3729856).
Ambry Genetics RCV000620305 SCV000735049 benign Cardiovascular phenotype 2015-06-23 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001517975 SCV001726593 benign Atrioventricular septal defect 4 2020-12-04 criteria provided, single submitter clinical testing
Molecular Genetics and Enzymology, National Research Centre RCV000128527 SCV000172172 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000037322 SCV001551693 benign not specified no assertion criteria provided clinical testing

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