ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn)

dbSNP: rs149351193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482788 SCV000573815 uncertain significance not provided 2019-10-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002506179 SCV002815301 uncertain significance Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease 2021-10-21 criteria provided, single submitter clinical testing

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